Clinical characteristics.

RAB32-related Parkinson disease (PARK-RAB32) is clinically indistinguishable from Parkinson disease of unknown cause and is characterized by the cardinal motor manifestations of bradykinesia, rigidity, resting tremor, and postural instability. PARK-RAB32 may also be associated with non-motor features of Parkinson disease, such as olfactory dysfunction, depression and other psychiatric manifestations, cognitive impairment, autonomic dysfunction (including dysphagia, orthostatic hypotension, urinary frequency/incontinence, and sexual dysfunction), and sleep disorders. Therapy-related complications resemble those seen in Parkinson disease of unknown cause, including motor fluctuations, dyskinesias, dystonia, and impulse control disorders.

Diagnosis/testing.

The diagnosis of PARK-RAB32 is established in a proband with parkinsonism (bradykinesia, rigidity, resting tremor, and/or postural instability) and the RAB32 heterozygous pathogenic variant c.213C>G (p.Ser71Arg) identified by molecular genetic testing.

Management.

Treatment of manifestations: The treatment does not differ from that of Parkinson disease of unknown cause. Medications used to treat motor manifestations include levodopa, in combination with a peripheral dopa decarboxylase inhibitor (carbidopa, benserazide) in either immediate- or extended-release formulations, dopamine agonists, catechol O-methyltransferase or monoamine oxidase-B inhibitors, anticholinergics, and amantadine. Due to the lower risk of neuropsychiatric manifestations, individuals with PARK-RAB32 may benefit from dopamine agonists. Most individuals respond well to levodopa and other dopaminergic medications. Individuals may benefit from physical, occupational, and speech therapies. Dyskinesias may be ameliorated with a reduction in dopaminergic therapy, continuous application of levodopa or apomorphine, amantadine, or deep brain stimulation. Delusions and hallucinations may be treated with reduction of dopaminergic therapy or quetiapine, pimavanserin, or low-dose clozapine. Depression may be treated with serotonin or serotonin-norepinephrine reuptake inhibitors. Cognitive impairment may be treated with cholinesterase inhibitors such as rivastigmine; dietary modification or symptomatic treatment for constipation; orthostatic hypotension may be treated with droxidopa, midodrine, or fludrocortisone; urinary dysfunction with beta-3 adrenergic receptor agonists, such as mirabegron or vibegron, or anti-muscarinic agents such as tolterodine or solifenacin. Sleep disorders such as REM sleep behavior disorder can be treated with melatonin or clonazepam.

Surveillance: Neurologic evaluations every six to 12 months to assess motor and non-motor manifestations and treatment efficacy; neuropsychiatric and cognitive assessment as needed; assessment for autonomic dysfunction and sleep disorders as needed; assessment of family and social work needs at each visit.

Agents/circumstances to avoid: Drugs that can induce or worsen parkinsonism including neuroleptics that cause dopaminergic receptor blockade (e.g., haloperidol, risperidone, ziprasidone, olanzapine), antiemetic drugs such as metoclopramide or promethazine, and other agents such as calcium channel blockers, valproate, lithium, and amiodarone should be avoided. Use of ergot-derived dopaminergic agents (e.g., bromocriptine, pergolide, or lisuride) should be avoided due to risk of cardiac or pulmonary fibrosis associated with their use.

Genetic counseling.

PARK-RAB32 is inherited in an autosomal dominant manner. The majority (74%) of individuals diagnosed with PARK-RAB32 have a positive family history of Parkinson disease. Each child of an individual with PARK-RAB32 has a 50% chance of inheriting the RAB32 pathogenic variant c.213C>G (p.Ser71Arg). Once the RAB32 pathogenic variant c.213C>G (p.Ser71Arg) has been identified in an affected family member, predictive testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

PARK-RAB32 should be considered in probands with the following clinical and imaging findings and family history.

Clinical findings of PARK-RAB32 are similar to those of Parkinson disease of unknown cause [Gustavsson et al 2024, Hop et al 2024, Gagliardi et al 2025, Kleinz et al 2025, Magistrelli et al 2025].

The cardinal sign of PARK-RAB32 is parkinsonism, defined as bradykinesia (slowness of movement AND decrement in amplitude or speed) in combination with at least one of the following:

• Resting tremor (rhythmic tremor usually of the hands and forearms when relaxed, which disappears with active limb movement)
• Rigidity (increased muscle tone resulting in resistance to passive movement)
• Postural instability (usually present in later disease stages)

Non-motor manifestations present in PARK-RAB32 include the following:

• Hyposmia
• Psychiatric manifestations
• Cognitive impairment
• Autonomic dysfunction
• Sleep disturbances

Additional clinical findings of PARK-RAB32 include the following:

• Adult onset
• Unilateral onset
• Slow disease progression
• Good response to levodopa therapy
• Levodopa-induced dyskinesias

Imaging findings [Hop et al 2024, Cavallieri et al 2025, Kleinz et al 2025]

• Brain MRI. Neuroimaging findings were unremarkable in most individuals with PARK-RAB32.
• DaTSCAN. All individuals with PARK-RAB32 who underwent DaTSCAN (dopamine transporter scan) showed dopaminergic neurodegeneration, confirming the presence of a presynaptic dopaminergic deficit.

Family history of Parkinson disease is present in 74% of reported individuals with PARK-RAB32 and is most consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of PARK-RAB32 is established in a proband with parkinsonism (bradykinesia, resting tremor, rigidity, and/or postural instability) and the RAB32 heterozygous pathogenic variant c.213C>G (p.Ser71Arg) identified by molecular genetic testing (see Table 1).

Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

RAB32-related Parkinson disease (PARK-RAB32) is clinically indistinguishable from Parkinson disease of unknown cause. PARK-RAB32 is characterized by the cardinal motor manifestations of typical parkinsonism (bradykinesia, rigidity, resting tremor, and postural instability). PARK-RAB32 may also manifest with non-motor features of Parkinson disease, such as olfactory dysfunction, depression and other psychiatric manifestations, cognitive impairment, autonomic dysfunction, and sleep disorders. Therapy-related complications resemble those seen in Parkinson disease of unknown cause, including motor fluctuations, dyskinesias, and impulse control disorders. To date, 83 individuals have been identified with PARK-RAB32 [Gustavsson et al 2024, Hop et al 2024, Gagliardi et al 2025, Kleinz et al 2025, Magistrelli et al 2025]. The following description of the phenotypic features associated with this condition is based on these reports.

Age of onset. The median age of onset for PARK-RAB32 is 54 years, with a range of 31-82 years.

Parkinsonian features [Gustavsson et al 2024, Hop et al 2024, Gagliardi et al 2025, Kleinz et al 2025, Magistrelli et al 2025]

• Motor manifestations. Core motor manifestations of Parkinson disease were reported in all individuals. Bradykinesia was present in every individual, while rigidity and resting tremor were also commonly observed; however, in many reports these features were not directly mentioned. Postural instability was noted in 67% of individuals. The mean age at examination was 74 years, and the median disease duration was 15 years, suggesting that the features present at the time of report reflected a more advanced stage of the disease. To date, limited detailed information is available on disease progression, although it appears to follow a similar course to Parkinson disease of unknown cause. Motor symptoms generally responded well to dopaminergic therapy, though motor fluctuations were frequently observed in advanced stages. Complications of dopaminergic therapy such as dyskinesias were reported in 34 individuals, and dystonia in six individuals.
• Non-motor manifestations
  • Hyposmia. Individuals with PARK-RAB32 have a high rate of hyposmia [Kleinz et al 2025]. At this point it is unknown whether hyposmia is a prodromal symptom in PARK-RAB32. The natural history of olfactory dysfunction, including the percentage of individuals who develop anosmia, remains unknown.
  • Psychiatric manifestations. Depression was reported in approximately 45% of individuals. Less common psychiatric symptoms included anxiety, observed in nine individuals, and psychosis, reported in two individuals. Impulse control disorders were mentioned in six individuals. Overall, the spectrum of psychiatric manifestations appears similar to that of Parkinson disease of unknown cause.
  • Cognitive impairment is one of the most common non-motor manifestations in individuals with PARK-RAB32. The prevalence rate of approximately 35% appears comparable to that observed in other inherited forms of Parkinson disease.
  • Autonomic dysfunction was documented in 17 individuals with PARK-RAB32. However, targeted testing for autonomic dysfunction in one study confirmed autonomic dysfunction in 11/11 individuals PARK-RAB32 [Kleinz et al 2025]. Autonomic dysfunction can include constipation, dysphagia, orthostatic hypotension, urinary frequency, and sexual dysfunction. Persons with dysphagia experience impaired eating and drinking, and have increased risk of malnutrition, dehydration, and aspiration, which can lead to aspiration pneumonia.
  • Sleep disorders include poor sleep quality, sleep fragmentation, excessive daytime sleepiness, insomnia, and REM sleep behavior disorder.

Genotype-Phenotype Correlations

To date, one RAB32 pathogenic variant, c.213C>G (p.Ser71Arg) has been associated with PARK-RAB32. Other RAB32 pathogenic variants are unlikely to cause Parkinson disease [Gabbert et al 2024, Radefeldt et al 2025].

Penetrance

The penetrance of PARK-RAB32 is unknown but is likely high considering the high frequency of positive family history, as well as population data results indicating a strong association of the RAB32 pathogenic variant c.213C>G (p.Ser71Arg) with Parkinson disease with an odds ratio of 65.5 [Hop et al 2024, Kleinz et al 2025].

Nomenclature

"Idiopathic Parkinson disease" and "sporadic Parkinson disease" are terms used in the Parkinson disease medical literature to describe Parkinson disease of unknown cause diagnosed in an individual with a negative family history. Future advances in the understanding of genetic risk factors are likely to identify genetic causes / risk factors in some individuals currently considered to have idiopathic or sporadic Parkinson disease.

Prevalence

To date, PARK-RAB32 has been identified in 83 individuals, although the prevalence may be higher than identified. The RAB32 c.213C>G (p.Ser71Arg) pathogenic variant is most frequently observed in individuals of southern European and North African ancestry [Beetz et al 2024, Hop et al 2024, Monfrini et al 2024, Radefeldt et al 2025]. About 87% of reported individuals had European ancestry, with most individuals originating in Italy; 9.2% were of Tunisian ancestry and 3% of mixed ethnicity. [Kleinz et al 2025]. A family history of Parkinson disease was reported in 74% of individuals with PARK-RAB32 [Kleinz et al 2025].

In contrast, studies in Asian populations, including two conducted in China, have not detected the RAB32 c.213C>G (p.Ser71Arg) pathogenic variant in individuals with Parkinson disease [Zhao et al 2024, Xue et al 2025]. Similarly, a German study failed to identify this pathogenic variant in individuals of German ancestry with Parkinson disease, while another identified a different RAB32 variant, c.259C>T (p.Arg87Ter), which does not appear to be causative of PARK-RAB32 [Gabbert et al 2024]. These findings suggest that PARK-RAB32 may be population specific, although further studies are needed to confirm this.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PARK-RAB32, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

To date, the treatment of individuals with PARK-RAB32 does not differ from that of Parkinson disease of other known and unknown causes. The following is a brief summary of recommended treatment for Parkinson disease, based on extensive existing guidelines and recommendations for pharmacotherapy of motor and non-motor manifestations of Parkinson disease as well as neurosurgical interventions for motor findings [Kleinz et al 2025, Magistrelli et al 2025].

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 6 are recommended.

Agents/Circumstances to Avoid

Several drugs can induce or worsen parkinsonism and should generally be avoided in individuals with Parkinson disease. These include but are not limited to neuroleptics that cause dopaminergic receptor blockade such as haloperidol, risperidone, ziprasidone, and olanzapine, antiemetics such as metoclopramide or promethazine, and other agents such as calcium channel blockers, valproate, lithium, and amiodarone.

Ergot-derived dopaminergic agents (e.g., bromocriptine, pergolide, or lisuride) should be avoided due to risk of cardiac or pulmonary fibrosis associated with their use.

Evaluation of Relatives at Risk

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

Pregnancy Management

Currently, there are no published reports on pregnancy management in women with PARK-RAB32. Given the typical age of onset, pregnancy is uncommon following the onset of PARK-RAB32. Based on evidence from Parkinson disease of unknown cause, levodopa monotherapy is the preferred treatment during pregnancy. Levodopa use has not been associated with increased risks of spontaneous abortion, teratogenic effects, or adverse birth outcomes. In contrast, there is insufficient evidence to establish the safety of dopamine agonists, selegiline, or rasagiline in pregnancy. Anticholinergic agents have been linked to minor congenital anomalies but no major complications. Amantadine, however, should be avoided due to its known teratogenic potential [Seier & Hiller 2017].

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 access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Mode of Inheritance

RAB32-related Parkinson disease (PARK-RAB32) is caused by the RAB32 pathogenic variant c.213C>G (p.Ser71Arg) and inherited in an autosomal dominant manner. (To date, c.213C>G [p.Ser71Arg] is the only RAB32 variant known to be causative of Parkinson disease.)

Risk to Family Members

Parents of a proband

• The majority (74%) of individuals diagnosed with PARK-RAB32 have a positive family history of Parkinson disease [Kleinz et al 2025].
• Twenty-six percent of individuals with PARK-RAB32 represent simplex cases (i.e., a single occurrence in a family).
• If the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment. Note: A proband may appear to be the only affected family member because of failure to recognize the disorder in family members, age-related or reduced penetrance of the disease in a heterozygous parent, or early death of the parent before the onset of disease manifestations. Therefore, de novo occurrence of a RAB32 pathogenic variant cannot be confirmed unless molecular genetic testing has demonstrated that neither parent is heterozygous for the RAB32 pathogenic variant.
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents:

• If a parent of the proband has the RAB32 c.213C>G (p.Ser71Arg) pathogenic variant, the risk to the sibs of inheriting the pathogenic variant is 50%. The penetrance of PARK-RAB32 is unknown but presumed to be high (see Penetrance).
• If the RAB32 pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism [Rahbari et al 2016].
• If the parents have not been tested for the RAB32 pathogenic variant but are clinically unaffected, sibs are still presumed to be at increased risk for PARK-RAB32 because of the possibility of age-related or reduced penetrance in a parent and the possibility of parental gonadal mosaicism.

Offspring of a proband. Each child of an individual with PARK-RAB32 has a 50% chance of inheriting the RAB32 pathogenic variant.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the RAB32 c.213C>G (p.Ser71Arg) pathogenic variant, the parent's family members may be at risk.

Related Genetic Counseling Issues

Predictive testing (i.e., testing of asymptomatic at-risk individuals)

• Predictive testing for at-risk relatives is possible once the RAB32 c.213C>G (p.Ser71Arg) pathogenic variant has been identified in an affected family member.
• Potential consequences of such testing (including but not limited to socioeconomic changes and the need for long-term follow up and evaluation arrangements for individuals with a positive test result) as well as the capabilities and limitations of predictive testing should be discussed in the context of formal genetic counseling prior to testing.

Predictive testing in minors (i.e., testing of asymptomatic at-risk individuals younger than age 18 years) for typically adult-onset conditions for which early treatment would have no beneficial effect on disease morbidity and mortality should be discussed in the context of formal genetic counseling. The autonomy of the minor is a primary concern and delaying predictive genetic testing until the at-risk individual is capable of informed decision making should be considered.

Family planning

• The optimal time for determination of genetic risk 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 or at risk.

Prenatal Testing and Preimplantation Genetic Testing

Once the RAB32 pathogenic variant p.Ser71Arg has 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 and preimplantation genetic testing. While most health care professionals would consider decisions regarding prenatal and preimplantation genetic testing to be the choice of the parents, discussion of these issues is appropriate.

Molecular Pathogenesis

RAB32 encodes Ras-related protein Rab-32 (RAB32), a member of the RAB family of small GTPases, which comprises more than 70 proteins involved in regulating intracellular vesicular trafficking. These GTPases play essential roles in membrane transport, organelle dynamics, and cellular signaling. Several RAB proteins are known to act as either substrates or regulators of leucine-rich repeat serine/threonine-protein kinase 2 (LRRK2), a key protein implicated in Parkinson disease. Recent functional analyses have demonstrated that the RAB32 pathogenic variant c.213C>G (p.Ser71Arg) significantly enhances LRRK2 kinase activity, as evidenced by increased autophosphorylation of LRRK2. This hyperactivation of LRRK2 is associated with endolysosomal dysfunction, mitophagy impairment, and neuroinflammation, all of which are central to Parkinson disease pathogenesis [Steger et al 2017, Purlyte et al 2018, Lara Ordóñez et al 2021]. Autopsy report of an individual with PARK-RAB32 demonstrated mild-to-moderate neuronal loss and neurofibrillary tangle inclusions in the substantia nigra with no Lewy body pathology [Gustavsson et al 2024]. Contrary to this observation, misfolded alpha-synuclein was identified in cerebrospinal fluid in two individuals with PARK-RAB32 [Kleinz et al 2025].

Mechanism of disease causation. RAB32 pathogenic variant c.213C>G (p.Ser71Arg) increases LRRK2 kinase activity and increases autophosphorylation of LRRK2, modulating LRRK2-driven neurodegeneration in Parkinson disease [Hop et al 2024].

Author Notes

Tomasz Chmiela, MD, PhD, is a Visiting Research Fellow in the Department of Neurology at the Mayo Clinic in Florida. He is a board-certified neurologist in Poland and a faculty researcher at the Faculty of Medical Sciences, Medical University of Silesia. In 2025, he completed his PhD dissertation, which was awarded distinction by the Chairman of the Medical University of Silesia. Since the beginning of his medical and scientific career, his research has focused on the genetics of Parkinson disease and related neurodegenerative disorders.

Emails: ude.oyam@zsamot.aleimhc, lp.ude.mus@aleimhct

Zbigniew Wszolek, MD, is a consultant in the Department of Neurology at Mayo Clinic in Jacksonville, Florida, and the Haworth Family Professor in Neurodegenerative Diseases. Dr Wszolek has contributed to discoveries related to the genetic basis of Parkinson disease and parkinsonism-related disorders. He has amassed vast clinical information about family pedigrees. Dr Wszolek has published more than 750 journal articles, reviews, editorials, and chapters, and 800 abstracts and letters. He is co-editor-in-chief of the Polish Journal of Neurology and Neurosurgery and former co-editor-in chief of Parkinsonism and Related Disorders. He is a founding officer of the International Association of Parkinsonism and Related Disorders.

Dr Wszolek is actively involved in clinical research regarding individuals with RAB32-related Parkinson disease (PARK-RAB32). He would be happy to communicate with persons who have any questions regarding diagnosis of PARK-RAB32 or other considerations.

Contact Dr Wszolek to inquire about review of RAB32 variants of uncertain significance.

Email: ude.oyam@weingibz.kelozsw

Acknowledgments

The authors would like to thank affected individuals and their families for participating in research and their contributions to the field.

Revision History

• 22 January 2026 (sw) Review posted live
• 18 November 2025 (tc) Original submission

Literature Cited

• Beetz C, Radefeldt M, Tripolszki K, Kandaswamy KK, Bauer P; ROPAD Study Group. RAB32 mutation in Parkinson's disease. Lancet Neurol. 2024;23:961. [PubMed: 39304251]
• Cavallieri F, Fraternali A, Arnone A, Fioravanti V, Monfrini E, Di Biasio F, Toschi G, Di Rauso G, Portaro G, Grisanti S, Salomone G, Kleinz T, Mandich P, Paul JJ, Beetz C, Bauer P, Ko JH, Bauckneht M, Melpignano A, Filice A, Di Fonzo A, Klein C, Strafella AP, Valzania F. 18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant. Parkinsonism Relat Disord. 2025;134:107343. [PubMed: 40117893]
• Cogan G, Tesson C, Brefel-Courbon C, Lanore A, Kodjovi GC, Welment L, Clot F, Lesage S, Brice A. Confirmation of RAB32 Ser71Arg involvement in Parkinson's disease. Mov Disord. 2025;40:174-5. [PMC free article: PMC11752979] [PubMed: 39311494]
• Dulski J, Heckman MG, White LJ, Uitti RJ, Wszolek ZK, Ross OA. Distinct biological underpinnings of Parkinson's disease motor subtypes: single-center study on pathway-stratified polygenic risk scores. Parkinsonism Relat Disord. 2025;137:107901. [PubMed: 40483897]
• Dulski J, Uitti RJ, Ross OA, Wszolek ZK. Genetic architecture of Parkinson's disease subtypes - review of the literature. Front Aging Neurosci. 2022;14:1023574. [PMC free article: PMC9632166] [PubMed: 36337703]
• Gabbert C, Shambetova C, Much C, Trinh J, Klein C. RAB32 variants in a German Parkinson's disease cohort. Mov Disord. 2024;39:2121-3. [PubMed: 39297534]
• Gagliardi M, Procopio R, Annesi G, Buonocore J, Talarico M, Quattrone A, Quattrone A. Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from southern Italy. NPJ Parkinsons Dis. 2025;11:52. [PMC free article: PMC11928529] [PubMed: 40118982]
• Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology, 2015;84:880-7. [PMC free article: PMC4351661] [PubMed: 25653295]
• Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilarino-Guell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Perinan MT, Amouri R, Ben Sassi S, Hentati F, Global Parkinson's Genetics P, Tonelli F, Alessi DR, Farrer MJ. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. Lancet Neurol. 2024;23:603-14. [PMC free article: PMC11096864] [PubMed: 38614108]
• Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI; Project MinE ALS Sequencing Consortium; Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. Nat Genet. 2024;56:1371-6. [PMC free article: PMC11250361] [PubMed: 38858457]
• Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, et al. Genetic risk of Parkinson disease and progression: an analysis of 13 longitudinal cohorts. Neurol Genet. 2019;5:e348. [PMC free article: PMC6659137] [PubMed: 31404238]
• Ji S, Wang C, Qiao H, Gu Z, Gan-Or Z, Fon EA, Chan P. Decreased penetrance of Parkinson's disease in elderly carriers of glucocerebrosidase gene L444P/R mutations: a community-based 10-year longitudinal study. Mov Disord. 2020;35:672-8. [PubMed: 31912918]
• Kleinz T, Cavallieri F, Borsche M, Toschi G, Valzania F, Fioravanti V, Valente EM, Mitrotti P, Avenali M, Zittel S, Born R, Matarazzo M, Di Fonzo A, Monfrini E, Radefeldt M, Santinelli L, Griebner N, Shambetova C, Brand M, Gabbert C, Blauwendraat C, Trinh J, Lohmann K, Beetz C, Bauer P, Bruggemann N, Klein C, et al. RAB32-linked Parkinson's disease: deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria. Mov Disord. 2025;40:2746-69. [PMC free article: PMC12710152] [PubMed: 41103171]
• Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C, et al. Nomenclature of Genetic Movement Disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force - an update. Mov Disord. 2022;37:905-35. [PubMed: 35481685]
• Lara Ordóñez AJ, Fasiczka R, Naaldijk Y, Hilfiker S. Rab GTPases in Parkinson's disease: a primer. Essays Biochem. 2021;65:961-74. [PMC free article: PMC8709891] [PubMed: 34414419]
• Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. Mov Disord. 2017;32:1432–8. [PMC free article: PMC5656509] [PubMed: 28639421]
• Lüth T, König IR, Grünewald A, Kasten M, Klein C, Hentati F, Farrer M, Trinh J. Age at onset of LRRK2 p.Gly2019Ser is related to environmental and lifestyle factors. Mov Disord. 2020;35:1854-8. [PubMed: 32875616]
• Magistrelli L, Brumana M, Rimoldi V, Poggi-Longostrevi S, Contaldi E, Pezzoli G, Straniero L, Isaias IU, Asselta R. The RAB32 p.Ser71Arg variant in parkinsonisms: insights from a large Italian cohort. Mov Disord. 2025;40:511-6. [PMC free article: PMC11926488] [PubMed: 39737595]
• Monfrini E, Minardi R, Valzania F, Calandra-Buonaura G, Mandich P, Di Fonzo A; ParkNet Study Group. RAB32 mutation in Parkinson's disease. Lancet Neurol. 2024;23:961-2. [PubMed: 39304252]
• Purlyte E, Dhekne HS, Sarhan AR, Gomez R, Lis P, Wightman M, Martinez TN, Tonelli F, Pfeffer SR, Alessi DR. Rab29 activation of the Parkinson's disease-associated LRRK2 kinase. EMBO J. 2018;37:1-18. [PMC free article: PMC5753036] [PubMed: 29212815]
• Radefeldt M, Lemke S, Chaichoompu K, Paul JJ, Curado F, Valzania F, Cavallieri F, Fioravanti V, Valente EM, Avenali M, Negrotti A, Hanagasi HA, Thonke S, Matarazzo M, Panzavolta A, Cerami C, Westenberger A, Klein C, Bauer P, Beetz C. Genetic and epidemiological insights into RAB32-linked Parkinson's disease. Mov Disord. 2025;40:147-51. [PMC free article: PMC11752972] [PubMed: 39460989]
• Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48:126-33. [PMC free article: PMC4731925] [PubMed: 26656846]
• Seier M, Hiller A. Parkinson's disease and pregnancy: an updated review. Parkinsonism Relat Disord. 2017;40:11-7. [PubMed: 28506531]
• Steger M, Diez F, Dhekne HS, Lis P, Nirujogi RS, Karayel O, Tonelli F, Martinez TN, Lorentzen E, Pfeffer SR, Alessi DR, Mann M. Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis. Elife. 2017;6:e31012. [PMC free article: PMC5695910] [PubMed: 29125462]
• Xue Y, Liu M, Chen K, Xu Y, Yang J. RAB32 Ser71Arg in Chinese patients with Parkinson's disease. Neurol Sci. 2025;46:1379-81. [PubMed: 39652162]
• Zhao Y, Pan H, Guo J, Tang B, Liu Z. RAB32 mutation in Parkinson's disease. Lancet Neurol. 2024;23:962-3. [PubMed: 39304253]