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PINK1 Type of Young-Onset Parkinson Disease

, MD, PhD and , MD.

Author Information and Affiliations

Initial Posting: ; Last Update: May 24, 2018.

Estimated reading time: 23 minutes


Clinical characteristics.

PINK1 type of young-onset Parkinson disease is characterized by early onset (mean age 33 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias.


The diagnosis of PINK1 type of young-onset Parkinson disease is suspected in individuals with early-onset parkinsonism (age <40 years), particularly if autosomal recessive inheritance is suggested by the family history. The diagnosis of PINK1 type of young-onset Parkinson disease is established by identification of biallelic PINK1 pathogenic variants on molecular genetic testing.


Treatment of manifestations: This disorder usually responds well to L-dopa and other dopaminergic therapies. L-dopa-induced dyskinesias can be reduced by adjusting dopaminergic therapies and by adding antidyskinetic agents. Motor fluctuations can be ameliorated by dose fractionation and by adding COMT inhibitors. As in individuals with idiopathic Parkinson disease, deep brain stimulation should be considered in more advanced cases.

Prevention of secondary complications: L-dopa dosage should not exceed the level required for satisfactory clinical response. If not contraindicated, dopamine agonists should be employed to possibly delay the onset of motor fluctuations, as affected individuals often require several decades of treatment.

Surveillance: Neurologic follow up including assessment of treatment effectiveness every three to 12 months.

Agents/circumstances to avoid: Neuroleptic treatment may exacerbate parkinsonism.

Genetic counseling.

PINK1 type of young-onset Parkinson disease is inherited in an autosomal recessive manner. At conception, each sib of a proband has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if both pathogenic variants have been identified in an affected family member.


Updated guidelines on the molecular diagnosis of Parkinson disease were provided in a joint effort by the European Federation of Neurological Societies (EFNS), the European Section of the International Parkinson and Movement Disorders Society (MDS-ES), and the European Neurological Society (ENS) [Berardelli et al 2013]. Some national societies (e.g., the German Society of Neurology) have also published guidelines on the molecular diagnosis of Parkinson disease [Finckh & Rieß 2016].

Suggestive Findings

PINK1 type of young-onset Parkinson disease should be suspected in individuals with the following findings:

  • Early onset (reported in 62%) (late onset in 22%, juvenile onset in 15%)
  • Bradykinesia (77%)
  • Rigidity (62%)
  • Dyskinesia (39%)
  • Motor fluctuations (34%)
  • Dystonia reported in 21% (often of the lower limbs), either as a presenting sign or occurring during disease progression. Notably, dystonia was absent in 35%, and no details given in 50% of individuals.
  • Cognitive decline (14%)
  • Psychotic symptoms (9%)
  • Good response to levodopa (L-dopa) treatment (in 99% of individuals with a reported ledopa response)
  • A family history consistent with autosomal recessive inheritance

Note: (1) This information is based on 139 reported individuals (from www.mdsgene.org; May 3, 2018). Notably, clinical information was often incomplete (e.g., information on olfactory function was available for 16 of the 139 individuals only). (2) PINK1 type of young-onset Parkinson disease is often clinically indistinguishable from Parkinson disease caused by pathogenic variants in PRKN or PARK7 or idiopathic Parkinson disease.

Establishing the Diagnosis

The diagnosis of PINK1 type of young-onset Parkinson disease is established in a proband by identification of biallelic pathogenic variants in PINK1 on molecular genetic testing (see Table 1). Molecular genetic testing for pathogenic variants in PINK1 and other genes in which pathogenic variants cause autosomal recessive Parkinson disease (e.g., PRKN, PARK7) is recommended in families in which autosomal recessive inheritance is suspected (affected sib pairs) or in simplex cases with early onset (age <40 years) [Berardelli et al 2013]. Identification of a single pathogenic variant is only suggestive (i.e., not diagnostic) of PINK1 type of young-onset Parkinson disease.

Molecular genetic testing approaches can include a combination of a multigene panel and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.

Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using a multigene panel (see Option 1), whereas those in whom the diagnosis of PINK1 type of young-onset Parkinson disease has not been considered are more likely to be diagnosed using genomic testing (see Option 2).

Option 1

A multigene panel that includes PINK1, PRKN, PARK7, and other genes of interest (see Differential Diagnosis) should be considered first. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.

For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Option 2

When the diagnosis of PINK1 type of young-onset Parkinson disease is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.

For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Clinical Characteristics

Clinical Description

The following information is based on a systematic review of published reports including 139 individuals with PINK1 type of young-onset Parkinson disease from 85 families (see www.mdsgene.org and references therein).

The majority of individuals (62%) have early onset, 22% have late onset, and 15% have juvenile onset (see www.mdsgene.org. Note: The age of onset was not specified in 10% of individuals). The mean age of onset is 32.6±12.1 years [Kasten et al 2010a]. Women and men are equally affected.

Symptoms are usually asymmetric (i.e., one side of the body is more affected than the other); in some individuals the symptoms at onset are symmetric. Bradykinesia and tremor are the most common presenting signs. Dystonia (often of the lower limbs) and hyperreflexia may also be present at onset or develop as the disease progresses [Bonifati et al 2005]. The disease is slowly progressive. Rigidity (93%) and postural instability (65%) occur with disease progression. Sleep benefit was reported for 12% of individuals (see www.mdsgene.org) [Kasten et al 2018].

Nonmotor symptoms and sleep impairment are common in individuals with PINK1 type of young-onset Parkinson disease [Ricciardi et al 2014]. Thus, in addition to parkinsonism, individuals with PINK1 type of young-onset Parkinson disease may be prone to psychiatric involvement. Abnormal behavior and/or psychiatric manifestations – in particular, depression (17%) and anxiety (10%) (see www.mdsgene.org) – may occur in affected individuals and may be the initial symptom. Other features include frontal dysfunction, hallucinations, and dementia [Kasten et al 2010a, Ricciardi et al 2014]. Autonomic features were reported for 14% of individuals (see www.mdsgene.org). Hyposmia was reported in 6% of 139 individuals. Diminished color discrimination may be present even prior to motor onset [Eggers et al 2010].

On average, the response to L-dopa is better than in idiopathic Parkinson disease [Valente & Ferraris 2010]; however, the incidence of L-dopa-induced dyskinesias may be greater in individuals with PINK1-associated young-onset Parkinson disease than in those with parkinsonism of different etiologies [Nishioka et al 2010].

Neuroimaging. CT and MRI neuroimaging of individuals with PINK1-associated young-onset Parkinson disease is usually normal.

Imaging of dopamine function (using 123-I-FP-CIT, DaTSCAN) generally demonstrated relatively symmetric loss of radioligand uptake in the striatum, similar to the pattern seen in the Parkin type of young-onset Parkinson disease (but also LRRK2 (Gly2019Ser) type of Parkinson disease and SNCA type of Parkinson disease) [McNeill et al 2013].

Reduced presynaptic striatal uptake is also depicted by 18F-dopa-PET studies in both homozygous individuals and asymptomatic heterozygous relatives, who had 85% reduction and 20%-30% reduction in uptake, respectively [Khan et al 2002, Eggers et al 2010].

In another study PET imaging with a dopamine D2 receptor ligand 11C-raclopride in one affected individual with a homozygous pathogenic missense variant revealed that postsynaptic 11C-raclopride uptake was normal in the bilateral putamen [Yamashita et al 2008].

MR spectroscopy demonstrated raised myoinositol levels in the basal ganglia of the two individuals who were imaged, reflecting possible astroglial proliferation [Prestel et al 2008]. Hilker et al [2012] performed phosphorous ((31)P) and proton ((1)H) 3-T magnetic resonance spectroscopic imaging and found putaminal GPC, PCr, HEP, and β-ATP levels well above the 2SD range compared to controls, suggesting that the dopaminergic deficit in PINK1 type of young-onset Parkinson disease relates to osmolyte dysregulation, while the delivery of high-energy phosphates is preserved.

Neuropathology. Neuropathologic data in individuals with PINK1 pathogenic variants are limited [Samaranch et al 2010, Poulopoulos et al 2012]. Brain autopsy data are available only for one individual who was a compound heterozygote (deletion and a splicing variant in exon 7) with onset of disease at age 31 years [Samaranch et al 2010, Poulopoulos et al 2012]. Pathology study revealed significant presence of Lewy bodies and neuronal loss in the substantia nigra pars compacta with sparing of the locus coeruleus, which would be atypical for idiopathic Parkinson disease. The brain stem reticular formation and the nucleus basalis of Meynert were also affected. There were no tau- or TDP43-positive inclusions. In a Parkinson disease brain bank study, Gandhi et al [2006] identified four individuals with Parkinson disease and heterozygous PINK1 pathogenic variants who showed pathologic findings consistent with classic Parkinson disease with Lewy bodies distributed in the brain stem and cortical areas, and neuronal loss affecting the substantia nigra pars compacta and neurofibrillary tangles Stage I to V.


Individuals with a heterozygous PINK1 pathogenic variant usually remain asymptomatic but may show subtle subclinical alterations (e.g., a latent nigrostriatal dopaminergic deficit on functional imaging, premotor-motor excitability changes detected by transcranial magnetic stimulation, reduced arm swing) [Nürnberger et al 2015, Weissbach et al 2017]. Hyposmia and diminished color discrimination may also be present in heterozygotes [Eggers et al 2010]. In asymptomatic heterozygotes, voxel-based morphometry revealed an increase of putaminal and pallidal gray matter volume, findings generally similar to those in the Parkin type of young-onset Parkinson disease [Binkofski et al 2007, Reetz et al 2010].

Genotype-Phenotype Correlations

No correlation between the type of variant and age at onset, clinical presentation, or disease progression has yet been observed.

Individuals homozygous for genomic PINK1 pathogenic variants and homoplasmic for two mitochondrially encoded DNA (mtDNA) variants (MT-ND5 and MT-ND6, encoding two subunits of complex I) had very early onset of symptoms [Piccoli et al 2008]. It is possible that the combination of pathogenic variants in both genes accelerated the disease onset.


Penetrance is age dependent but appears to be complete in individuals who have biallelic PINK1 pathogenic variants.


The prevalence is not known. Overall, PINK1 pathogenic variants are a rare cause of early-onset parkinsonism [Marongiu et al 2008].

The proportion of men among individuals with PINK1 type of young-onset Parkinson disease is 42%. The majority of families are of mixed ethnicity (32%) or white (33%); 18% are Asian. Most reported families originate from Italy (20%), Ireland (10%), or Spain (8%) (see www.mdsgene.org) [Kasten et al 2018].

Differential Diagnosis

Clinically, PINK1 type of young-onset Parkinson disease and idiopathic Parkinson disease are difficult to differentiate (see Parkinson Disease Overview). More than 80% of individuals with Parkinson disease have no family history of the disorder. A monogenic cause of Parkinson disease can be identified in some individuals with a positive family history.

Parkin type of early-onset Parkinson disease, caused by mutation of PRKN (formerly PARK2), is more common than PINK1 type of young-onset Parkinson disease. The clinical findings in individuals with pathogenic variants in PRKN and PINK1 are indistinguishable.

Another disorder in the differential diagnosis is the PARK7-type of young-onset Parkinson disease (OMIM 606324), which also presents as an early-onset disorder with a phenotype generally similar to PINK1 type of young-onset Parkinson disease.

For individuals with juvenile-onset Parkinson disease, especially those with prominent dystonia, dopa-responsive dystonia should be considered – for example, GTP cyclohydrolase 1-deficient dopa-responsive dystonia, caused by GCH1 pathogenic variants.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PINK1 type of young-onset Parkinson disease, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

  • Assessment for presence/severity of atypical signs using the Unified Parkinson Disease Rating Scale [Goetz et al 2008]
  • Evaluation of the degree of response to treatment and its potential complications
  • Assessment for cognitive or behavioral problems
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

To date, the treatment of PINK1 type of young-onset Parkinson disease is not different from that of idiopathic Parkinson disease and no specific guidelines or recommendations have been developed. For general treatment guidelines for Parkinson disease see Ferreira et al [2013].

Individuals with PINK1 type of young-onset Parkinson disease have a mild form of Parkinson disease that responds well to levodopa (L-dopa) and to other dopaminergic agonists.

  • Response is usually significant and is sustained for low doses of L-dopa even after long disease duration. The response may be even better in individuals with PINK1 type of young-onset Parkinson disease than in individuals with idiopathic Parkinson disease [Valente & Ferraris 2010].
  • The major problem is the early occurrence of severe L-dopa-induced dyskinesias (abnormal involuntary movements) and fluctuations. Fluctuations can be reduced by a combination of dopamine therapies (e.g., dopamine agonists), adding COMT inhibitors, and keeping the doses of L-dopa as low as possible.
  • The successful use of deep brain stimulation in individuals with PINK1 type of young-onset Parkinson disease has been described [Moro et al 2008, Johansen et al 2011].

Prevention of Secondary Complications

To reduce or delay side effects, L-dopa dosage should not exceed the level required for satisfactory clinical response. If not contraindicated, dopamine agonists should be employed to possibly delay the onset of motor fluctuations, as affected individuals often require several decades of treatment.


Neurologic follow up every three to 12 months to modify treatment as needed is appropriate. No formal guidelines for surveillance have been formulated.

Agents/Circumstances to Avoid

Neuroleptic treatment may exacerbate parkinsonism.

Evaluation of Relatives at Risk

Owing to the absence of preventive treatment or measures, presymptomatic genetic diagnosis is not medically justified.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

No reports specifically address pregnancy management in women with PINK1 type of young-onset Parkinson disease. However, in general, pregnancy may either exacerbate or improve symptoms of Parkinson disease [Shulman et al 2000, Scott & Chowdhury 2005]. L-dopa crosses the placenta and (theoretically) may have an adverse effect on fetal development, as some animal models have shown that high doses of L-dopa administered during pregnancy may induce stillbirth and birth defects including skeletal malformations [Scott & Chowdhury 2005]. However, based on more than 30 individuals recorded in the literature, L-dopa treatment during human pregnancy has not resulted in adverse fetal outcome [Scott & Chowdhury 2005].

See MotherToBaby for further information on medication use during pregnancy.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

PINK1 type of young-onset Parkinson disease is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

Sibs of a proband

Offspring of a proband

  • The offspring of an individual with PINK1 type of young-onset Parkinson disease are obligate heterozygotes (carriers) for a pathogenic variant in PINK1.
  • The risk to offspring of being affected depends on the frequency of heterozygotes in the general population, which is unknown; however, based on current knowledge, the proportion of heterozygotes is probably less than 1%, generating a risk of less than 0.25% to offspring of being affected. As with other autosomal recessive disorders, the risk is higher when the proband and his/her reproductive partner are related.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a PINK1 pathogenic variant.

Carrier (Heterozygote) Detection

Carrier testing for at-risk relatives requires prior identification of the PINK1 pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

Prenatal Testing and Preimplantation Genetic Testing

Once the PINK1 pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • American Parkinson Disease Association (APDA)
    Phone: 800-223-2732 (toll-free); 718-981-8001
    Fax: 718-981-4399
    Email: apda@apdaparkinson.org
  • MedlinePlus
  • Michael J. Fox Foundation for Parkinson's Research
    Phone: 800-708-7644 (toll-free)
    Email: info@michaeljfox.org
  • Parkinson's Foundation
    Phone: 800-4PD-INFO (473-4636)
    Email: contact@parkinson.org

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

PINK1 Type of Young-Onset Parkinson Disease : Genes and Databases

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for PINK1 Type of Young-Onset Parkinson Disease (View All in OMIM)


Gene structure. PINK1 contains eight exons (NM_032409.2) spanning about 18 kb. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. The most common PINK1 pathogenic variant, p.Gln456Ter, was identified in 12 of 139 (9%) reported individuals. Overall, three quarters of individuals had private pathogenic variants that were each identified in no more than five individuals. Changes have been identified in the homozygous, compound-heterozygous, and heterozygous state. Variants include missense, nonsense, and splice site variants and small insertions. Rarely, exon, multiexon [Li et al 2005, Cazeneuve et al 2009], and whole-gene deletions [Marongiu et al 2007] have been described.

Table 2.

PINK1 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.1231G>Ap.Gly411Ser NM_032409​.2

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. The gene encodes a 581-amino-acid serine/threonine kinase, PTEN-induced putative kinase 1 (NP_115785.1). The PINK1 kinase is located in the mitochondria spanning the outer mitochondrial membrane with the C-terminal kinase domain facing the cytoplasm and the N-terminal end inside the mitochondria. PINK1 presumably exerts its neuroprotective effect by phosphorylating specific mitochondrial proteins and, in turn, modulating their functions [Sim et al 2006]. PINK1 thereby promotes elimination of dysfunctional mitochondria by autophagy. Notably, PINK1 and parkin (see Parkinson Disease Overview) have been mapped to a shared pathway, with PINK1 acting upstream of parkin, where it can initiate the translocation of parkin to mitochondria [Hoepken et al 2007, Gandhi et al 2009, Narendra et al 2010, Vives-Bauza et al 2010, Rakovic et al 2013, Kitagishi et al 2017].

Abnormal gene product. Most of the known pathogenic variants are localized within the serine/threonine kinase domain of PINK1 as expected [Valente et al 2004]. PINK1 pathogenic variants or PINK1 silencing result in reduced mtDNA levels, defective ATP production, impaired mitochondrial calcium handling, and increased free radical generation. This in turn results in a reduction of mitochondrial membrane potential and an increased susceptibility to apoptosis in neuronal cells, animal models, and patient-derived fibroblasts [Valente et al 2004, Gegg et al 2009, Abramov et al 2011].

Overexpression of the parkin protein can rescue the effects of a PINK1 pathogenic variant in Drosophila and mammalian cells. Studies in fibroblasts from human individuals with Parkinson disease revealed impaired ubiquitination of mitofusins and confirmed the link between the PINK1 and parkin pathways [Rakovic et al 2010, Rakovic et al 2011, Seibler et al 2011, Rakovic et al 2013, Koyano et al 2014]. A link with LRRK2 [Azkona et al 2018] and alpha-synuclein levels [Chung et al 2016] has also been demonstrated. PINK1-patient-specific induced pluripotent stem cell-derived midbrain dopamine neurons exhibit mitochondrial dysfunction with increased susceptibility to mitochondrial toxins [Chung et al 2016]. Animal studies of Pink1 knockout mice showed defects in mitochondrial depolarization and synaptic transmission that were rescued by phosphomimetic NdufA10 in knockout mouse cells and in pink(B9)-null mutated Drosophila [Morais et al 2014]. Complex I deficits and adenosine triphosphate synthesis were also rescued in cells derived from individuals with PINK1 type of young-onset Parkinson disease [Morais et al 2014]. Heterozygous Pink1 knockout (Pink(+/-)) mice show subtle alterations of dopamine-dependent striatal synaptic plasticity [Madeo et al 2014]. While chronic exposure to low doses of rotenone was not sufficient to alter mitochondrial integrity and ATP production in this model, the rotenone led to profound impairment in expression of long-term plasticity at corticostriatal synapses, suggesting that disruption of synaptic plasticity may represent an early feature of a pre-manifesting state of the disease [Martella et al 2016]. Findings of possible translational and treatment relevance include the role of vitamin K2 as a mitochondrial electron carrier rescuing PINK1 deficiency [Vos et al 2012] and the observation that cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency [Vos et al 2017].


Literature Cited

  • Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One. 2011;6:e25622. [PMC free article: PMC3197155] [PubMed: 22043288]
  • Azkona G, López de Maturana R, Del Rio P, Sousa A, Vazquez N, Zubiarrain A, Jimenez-Blasco D, Bolaños JP, Morales B, Auburger G, Arbelo JM, Sánchez-Pernaute R. LRRK2 expression is deregulated in fibroblasts and neurons from Parkinson patients with mutations in PINK1. Mol Neurobiol. 2018;55:506–16. [PMC free article: PMC5808058] [PubMed: 27975167]
  • Berardelli A, Wenning GK, Antonini A, Berg D, Bloem BR, Bonifati V, Brooks D, Burn DJ, Colosimo C, Fanciulli A, Ferreira J, Gasser T, Grandas F, Kanovsky P, Kostic V, Kulisevsky J, Oertel W, Poewe W, Reese JP, Relja M, Ruzicka E, Schrag A, Seppi K, Taba P, Vidailhet M. EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. Eur J Neurol. 2013;20:16–34. [PubMed: 23279440]
  • Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, van Eimeren T, Thiel A, Büchel C, Pramstaller PP, Siebner HR, Klein C. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology. 2007;69:842–50. [PubMed: 17724286]
  • Biswas A, Sadhukhan T, Majumder S, Misra AK, Das SK, Ray K, Ray J, et al. Evaluation of PINK1 variants in Indian Parkinson's disease patients. Parkinsonism Relat Disord. 2010;16:167–71. [PubMed: 19889566]
  • Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA, et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology. 2005;65:87–95. [PubMed: 16009891]
  • Cazeneuve C, Sân C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, Brice A, Salih MA. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics. 2009;10:265–70. [PubMed: 19214605]
  • Chung SY, Kishinevsky S, Mazzulli JR, Graziotto J, Mrejeru A, Mosharov EV, Puspita L, Valiulahi P, Sulzer D, Milner TA, Taldone T, Krainc D, Studer L, Shim JW. Parkin and PINK1 patient iPSC-derived midbrain dopamine neurons exhibit mitochondrial dysfunction and α-synuclein accumulation. Stem Cell Reports. 2016;7:664–77. [PMC free article: PMC5063469] [PubMed: 27641647]
  • Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, Salvatore E, Dallapiccola B, Filla A, Valente EM, De Michele G. PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. Mov Disord. 2006;21:1265–7. [PubMed: 16700027]
  • Eggers C, Schmidt A, Hagenah J, Brüggemann N, Klein JC, Tadic V, Kertelge L, Kasten M, Binkofski F, Siebner H, Neumaier B, Fink GR, Hilker R, Klein C. Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. Neurology. 2010;74:1798–805. [PubMed: 20513816]
  • Ferreira JJ, Katzenschlager R, Bloem BR, Bonuccelli U, Burn D, Deuschl G, Dietrichs E, Fabbrini G, Friedman A, Kanovsky P, Kostic V, Nieuwboer A, Odin P, Poewe W, Rascol O, Sampaio C, Schüpbach M, Tolosa E, Trenkwalder C, Schapira A, Berardelli A, Oertel WH. Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease. Eur J Neurol. 2013;20:5–15. [PubMed: 23279439]
  • Finckh U, Rieß O. S3 guideline for idiopathic Parkinson syndrome [in German]. Deuschl G, Oertel W, Reichmann H, eds. Deutsche Gesellschaft für Neurologie. 2016.
  • Gandhi S, Muqit MM, Stanyer L, Healy DG, Abou-Sleiman PM, Hargreaves I, Heales S, Ganguly M, Parsons L, Lees AJ, Latchman DS, Holton JL, Wood NW, Revesz T. PINK1 protein in normal human brain and Parkinson's disease. Brain. 2006;129:1720–31. [PubMed: 16702191]
  • Gandhi S, Wood-Kaczmar A, Yao Z, Plun-Favreau H, Deas E, Klupsch K, Downward J, Latchman DS, Tabrizi SJ, Wood NW, Duchen MR, Abramov AY. PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell. 2009;33:627–38. [PMC free article: PMC2724101] [PubMed: 19285945]
  • Gegg ME, Cooper JM, Schapira AH, Taanman JW. Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. PLoS One. 2009;4:e4756. [PMC free article: PMC2649444] [PubMed: 19270741]
  • Goetz CG, Tilley BC, Shaftman SR, Stebbins GT, Fahn S, Martinez-Martin P, Poewe W, Sampaio C, Stern MB, Dodel R, Dubois B, Holloway R, Jankovic J, Kulisevsky J, Lang AE, Lees A, Leurgans S, LeWitt PA, Nyenhuis D, Olanow CW, Rascol O, Schrag A, Teresi JA, van Hilten JJ, LaPelle N, et al. Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov Disord. 2008;23:2129–70. [PubMed: 19025984]
  • Hilker R, Pilatus U, Eggers C, Hagenah J, Roggendorf J, Baudrexel S, Klein JC, Neumaier B, Fink GR, Steinmetz H, Klein C, Hattingen E. The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations. PLoS One. 2012;7:e51308. [PMC free article: PMC3519591] [PubMed: 23251494]
  • Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Müller K, Dröse S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis. 2007;25:401–11. [PubMed: 17141510]
  • Ishihara-Paul L, Hulihan MM, Kachergus J, Upmanyu R, Warren L, Amouri R, Elango R, Prinjha RK, Soto A, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, Middleton LT, Gibson RA, Hentati F, Farrer MJ. PINK1 mutations and parkinsonism. Neurology. 2008;71:896–902. [PMC free article: PMC2676945] [PubMed: 18685134]
  • Johansen KK, Jørgensen JV, White LR, Farrer MJ, Aasly JO. Parkinson-related genetics in patients treated with deep brain stimulation. Acta Neurol Scand. 2011;123:201–6. [PubMed: 20545633]
  • Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-phenotype relations for the Parkinson's disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord. 2018;33:730–41. [PubMed: 29644727]
  • Kasten M, Kertelge L, Brüggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C. Nonmotor symptoms in genetic Parkinson disease. Arch Neurol. 2010a;67:670–6. [PubMed: 20558386]
  • Kasten M, Weichert C, Lohmann K, Klein C. Clinical and demographic characteristics of PINK1 mutation carriers – a meta-analysis. Mov Disord. 2010b;25:952–4. [PubMed: 20461815]
  • Keyser RJ, Lesage S, Brice A, Carr J, Bardien S. Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. Biochem Biophys Res Commun. 2010;398:125–9. [PubMed: 20558144]
  • Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, Piccini P. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol. 2002;52:849–53. [PubMed: 12447943]
  • Kitagishi Y, Nakano N, Ogino M, Ichimura M, Minami A, Matsuda S. PINK1 signaling in mitochondrial homeostasis and in aging – Review. Int J Mol Med. 2017;39:3–8. [PubMed: 27959386]
  • Koyano F, Okatsu K, Kosako H, Tamura Y, Go E, Kimura M, Kimura Y, Tsuchiya H, Yoshihara H, Hirokawa T, Endo T, Fon EA, Trempe JF, Saeki Y, Tanaka K, Matsuda N. Ubiquitin is phosphorylated by PINK1 to activate parkin. Nature. 2014;510:162–6. [PubMed: 24784582]
  • Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet. 2009;18:R48–R59. [PubMed: 19297401]
  • Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology. 2005;64:1955–7. [PubMed: 15955953]
  • Madeo G, Schirinzi T, Martella G, Latagliata EC, Puglisi F, Shen J, Valente EM, Federici M, Mercuri NB, Puglisi-Allegra S, Bonsi P, Pisani A. PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. Mov Disord. 2014;29:41–53. [PMC free article: PMC4022284] [PubMed: 24167038]
  • Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Hum Mutat. 2007;28:98. [PubMed: 17154281]
  • Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat. 2008;29:565. [PubMed: 18330912]
  • Martella G, Madeo G, Maltese M, Vanni V, Puglisi F, Ferraro E, Schirinzi T, Valente EM, Bonanni L, Shen J, Mandolesi G, Mercuri NB, Bonsi P, Pisani A. Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. Neurobiol Dis. 2016;91:21–36. [PubMed: 26916954]
  • McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, Herrera J, Houlden H, Hoexter M, Isla C, Lees A, Lorenzo-Betancor O, Mencacci NE, Pastor P, Pappata S, Pellecchia MT, Silveria-Moriyama L, Varrone A, Foltynie T, Schapira AH. Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLoS One. 2013;8:e69190. [PMC free article: PMC3720622] [PubMed: 23935950]
  • Morais VA, Haddad D, Craessaerts K, De Bock PJ, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B. PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. Science. 2014;344:203–7. [PubMed: 24652937]
  • Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology. 2008;70:1186–91. [PubMed: 18378882]
  • Narendra DP, Jin SM, Tanaka A, Suen DF, Gautier CA, Shen J, Cookson MR, Youle RJ. PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol. 2010;8:e1000298. [PMC free article: PMC2811155] [PubMed: 20126261]
  • Nishioka K, Kefi M, Jasinska-Myga B, Wider C, Vilarino-Guell C, Ross OA, Heckman MG, Middleton LT, Ishihara-Paul L, Gibson RA, Amouri R, Yahmed SB, Sassi SB, Zouari M, Euch GE, Farrer MJ, Hentati F. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson disease. J Neurol Neurosurg Psychiatry. 2010;81:391–5. [PubMed: 19726410]
  • Nürnberger L, Klein C, Baudrexel S, Roggendorf J, Hildner M, Chen S, Kang JS, Hilker R, Hagenah J. Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers. Mov Disord. 2015;30:386–92. [PubMed: 25545816]
  • Piccoli C, Ripoli M, Quarato G, Scrima R, D'Aprile A, Boffoli D, Margaglione M, Criscuolo C, De Michele G, Sardanelli A, Papa S, Capitanio N. Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. J Med Genet. 2008;45:596–602. [PubMed: 18524835]
  • Poulopoulos M, Levy OA, Alcalay RN. The neuropathology of genetic Parkinson's disease. Mov Disord. 2012;27:831–42. [PMC free article: PMC3383342] [PubMed: 22451330]
  • Prestel J, Gempel K, Hauser TK, Schweitzer K, Prokisch H, Ahting U, Freudenstein D, Bueltmann E, Naegele T, Berg D, Klopstock T, Gasser T. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J Neurol. 2008;255:643–8. [PubMed: 18286320]
  • Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism. Brai. 2016;(n140):98–1. [PMC free article: PMC5379862] [PubMed: 27807026]
  • Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C. Mutations in PINK1 and Parkin impair ubiquitination of mitofusins in human fibroblasts. PLoS One. 2011;6:e16746. [PMC free article: PMC3050809] [PubMed: 21408142]
  • Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet. 2010;19:3124–37. [PubMed: 20508036]
  • Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. J Biol Chem. 2013;288:2223–37. [PMC free article: PMC3554895] [PubMed: 23212910]
  • Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis. 2010;39:402–8. [PubMed: 20483373]
  • Ricciardi L, Petrucci S, Guidubaldi A, Ialongo T, Serra L, Ferraris A, Spanò B, Bozzali M, Valente EM, Bentivoglio AR. Phenotypic variability of PINK1 expression: 12 years' clinical follow-up of two Italian families. Mov Disord. 2014;29:1561–6. [PubMed: 25164310]
  • Samaranch L, Lorenzo-Betancor O, Arbelo JM, Ferrer I, Lorenzo E, Irigoyen J, Pastor MA, Marrero C, Isla C, Herrera-Henriquez J, Pastor P. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain. 2010;133:1128–42. [PubMed: 20356854]
  • Scott M, Chowdhury M. Pregnancy in Parkinson's disease: unique case report and review of the literature. Mov Disord. 2005;20:1078–9. [PubMed: 16001415]
  • Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D. Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1induced pluripotent stem cells. J Neurosci. 2011;31:5970–6. [PMC free article: PMC3091622] [PubMed: 21508222]
  • Shulman LM, Minagar A, Weiner WJ. The effect of pregnancy in Parkinson's disease. Mov Disord. 2000;15:132–5. [PubMed: 10634252]
  • Sim CH, Lio DS, Mok SS, Masters CL, Hill AF, Culvenor JG, Cheng HC. C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1. Hum Mol Genet. 2006;15:3251–62. [PubMed: 17000703]
  • Tan EK, Refai FS, Siddique M, Yap K, Ho P, Fook-Chong S, Zhao Y. Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect. Hum Mutat. 2009;30:1551–7. [PubMed: 19847793]
  • Toft M, Myhre R, Pielsticker L, White LR, Aasly JO, Farrer MJ. PINK1 mutation heterozygosity and the risk of Parkinson's disease. J Neurol Neurosurg Psychiatry. 2007;78:82–4. [PMC free article: PMC2117782] [PubMed: 17172567]
  • Valente E, Ferraris A. Pink1 (PARK6) and Parkinson’s disease. In: Schapira A, Lang AE, Fahn S. Saunders, eds. Movement Disorders 4. Blue Books of Neurology. Philadelphia, PA: Elsevier; 2010:66-82.
  • Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004;304:1158–60. [PubMed: 15087508]
  • Vives-Bauza C, Zhou C, Huang Y, Cui M, de Vries RL, Kim J, May J, Tocilescu MA, Liu W, Ko HS, Magrané J, Moore DJ, Dawson VL, Grailhe R, Dawson TM, Li C, Tieu K, Przedborski S. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci U S A. 2010;107:378–83. [PMC free article: PMC2806779] [PubMed: 19966284]
  • Vos M, Esposito G, Edirisinghe JN, Vilain S, Haddad DM, Slabbaert JR, Van Meensel S, Schaap O, De Strooper B, Meganathan R, Morais VA, Verstreken P. Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency. Science. 2012;2012;336:1306–10. [PubMed: 22582012]
  • Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P. Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency. J Cell Biol. 2017;216:695–708. [PMC free article: PMC5346965] [PubMed: 28137779]
  • Weissbach A, Bäumer T, Pramstaller PP, Brüggemann N, Tadic V, Chen R, Klein C, Münchau A. Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers. Clin Neurophysiol. 2017;128:275–80. [PubMed: 27843055]
  • Yamashita H, Kohriyama T, Ohshita T, Takahashi T, Hashikawa K, Hattori N, Fukuyama H, Matsumoto M. Case of a 30-year history of PARK6 --findings from functional imaging of the brain. Rinsho Shinkeigaku. 2008;48:662–5. [PubMed: 19048950]
  • Zhang X, Zhang H, Liao B, Guo J, Xia K, Tang B. Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011;36:490–7. [PubMed: 21743139]

Chapter Notes

Revision History

  • 24 May 2018 (sw) Comprehensive update posted live
  • 18 September 2014 (me) Comprehensive update posted live
  • 6 September 2012 (me) Comprehensive update posted live
  • 16 March 2010 (me) Review posted live
  • 1 December 2009 (ck) Original submission
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