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Perry Syndrome

Synonym: Parkinsonism with Alveolar Hypoventilation and Mental Depression

, MD and , MD.

Author Information
, MD
Department of Neurology
Mayo Clinic
Jacksonville, Florida
, MD
Department of Clinical Neurosciences
Centre Hospitalier Universitaire Vaudois
Lausanne, Switzerland

Initial Posting: ; Last Update: May 9, 2013.

Summary

Disease characteristics. Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Diagnosis/testing. The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene in which mutations are known to cause Perry syndrome.

Management. Treatment of manifestations: Dopaminergic therapy (particularly levodopa/carbidopa) should be considered in all individuals with significant parkinsonism. Although response to levodopa is often poor, some individuals may have long-term benefit. Noninvasive or invasive ventilation support may improve quality of life and prolong life expectancy. Those patients with psychiatric manifestations may benefit from antidepressants and psychiatric care. Weight loss is managed with appropriate dietary changes.

Surveillance: Routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), strength; and mood.

Agents/circumstances to avoid: Central respiratory depressants (e.g., benzodiazepines, alcohol).

Genetic counseling. Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to de novo mutations is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation. Prenatal testing is possible for families in which the disease-causing mutation has been identified.

Diagnosis

Clinical Diagnosis

Perry syndrome should be suspected in individuals with early-onset familial parkinsonism, particularly when associated with mood/personality changes (depression, apathy, withdrawal, disinhibition) and weight loss.

Central hypoventilation, if present, strongly supports the diagnosis. Sleep studies are recommended to detect hypoventilation. Autonomic dysfunction has been reported in one family and may support the diagnosis.

Definitive diagnosis relies on identification of a disease-causing mutation in DCTN1.

Molecular Genetic Testing

Gene. DCTN1 is the only gene in which mutations are known to cause Perry syndrome.

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in Perry Syndrome

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
DCTN1Sequence analysis of select exonsSequence variants in exon2, 3Unknown
Sequence analysisSequence variants 324/24 (100%) 4
Deletion/duplication analysis 5Unknown 6Unknown, none reported 6

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Exons tested may vary between laboratories.

3. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected.

4. All 24 individuals with Perry syndrome who have been tested and reported so far harbor one of five mutations in exon 2 of DCTN1 (Table 2) [Farrer et al 2009, Newsway et al 2010, Ohshima et al 2010]. Therefore, mutation detection frequency using sequence analysis is 100%. However, given the rarity of the disease and the limited number of families tested so far, it is likely that additional mutations will be identified in subsequent families.

5. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

6. No deletions or duplications involving DCTN1 have been reported to cause Perry syndrome.

Interpretation of test results. For issues to consider in interpretation of sequence analysis results, click here.

Information on specific allelic variants may be available in Molecular Genetics (see Table A. Genes and Databases and/or Pathologic allelic variants).

Testing Strategy

To confirm/establish the diagnosis in a proband. Sequence analysis of DCTN1 is recommended to confirm the diagnosis in a proband. Given that all known mutations cluster in exon 2, it may be reasonable to sequence this exon first. If no mutation is identified by sequence analysis, deletion/duplication analysis may be considered, although the diagnostic yield is unknown.

Predictive testing for at-risk asymptomatic adult family members requires prior identification of the disease-causing mutation in the family.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutation in the family.

Clinical Description

Natural History

The cardinal findings of Perry syndrome are parkinsonism, hypoventilation, depression, and weight loss [Wider & Wszolek 2008, Wider et al 2010]. The mean age at onset is 48 years (range: 35-61) and the mean disease duration is five years (range: 2-10). Psychiatric (depression, apathy, character changes, withdrawal) and motor (parkinsonism) symptoms tend to occur early, whereas severe weight loss and hypoventilation manifest later. In most affected persons the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide [Wider & Wszolek 2008].

Parkinsonism. Most affected individuals present with akinetic-rigid and rather symmetric parkinsonism that is less severe than that found in Parkinson disease. When present, tremor is often postural; however, typical rest tremor has been reported.

Hypoventilation. Alveolar hypoventilation manifests particularly at night or during sleep with tachypnea alternating with normal respiratory cycles, leading to frequent awakenings. Polysomnographic recordings show that hypoxemia and hypercapnia are of central origin, i.e., there is no obstructive or structural respiratory tract abnormality. One detailed autopsy study demonstrated significant neuronal loss in regions critical for respiratory drive (ventrolateral medulla [pre-Bötzinger complex] and dorsal raphe nucleus), which may account for central hypoventilation [Tsuboi et al 2008]. Of note, hypoventilation was not reported in one of the ten families with genetically proven Perry syndrome [Roy et al 1988, Farrer et al 2009].

Sleep difficulties, a common complaint, reflect hypoventilation.

Depression. Psychiatric findings are dominated by apathy, social withdrawal, and “loss of psychic self-activation” (referred to as “athymhormia” in the French literature), although true depression has also been reported.

One affected individual also presented with frontotemporal dementia-type behavioral manifestations, downward gaze abnormalities, and autonomic dysfunction [Newsway et al 2010].

Weight loss. No anatomic substrate has been reported to account for severe weight loss. Additionally, in most affected individuals weight loss cannot be attributed to significant dysphagia. Weight loss may in fact reflect psychiatric changes; however, mechanisms involving central modification of hunger sensation or an increase in metabolic rate cannot be excluded.

Autonomic failure. In one family from Japan with a DCTN1 mutation, the four affected individuals displayed early and severe autonomic failure [Ohshima et al 2010].

Neuroimaging

  • Structural brain imaging is usually normal.
  • Functional imaging using 18-fluorodeoxyglucose PET (FDG-PET) showed reduced metabolic rate in the lateral prefrontal and temporal regions in one study [Lechevalier et al 2005].
  • Dopaminergic pathway functional imaging using 18-fluorodopa PET (FD-PET) showed reduced striatal tracer uptake, however to a lesser extent than in persons with Parkinson disease [Perry et al 1990].
  • In four affected individuals in one family from Japan, decreased cardiac uptake with [123]I-metaiodobenzylguanidine scintigram was reported [Ohshima et al 2010].

Neuropathology. Histology shows severe neuronal loss in the substantia nigra, with no Lewy bodies. Lesser degrees of neuronal loss are found in the locus ceruleus, lentiform nucleus, hypothalamus, periaqueductal gray matter, dorsal raphe nucleus, and brain stem reticular formation [Wider et al 2009]. Specific loss of putative respiratory neurons was demonstrated in the ventrolateral medulla and dorsal raphe nucleus [Tsuboi et al 2008].

Immunohistochemistry shows ubiquitin- and transactive response DNA-binding protein 43 (TDP-43)-positive neuronal inclusions, dystrophic neurites, glial cytoplasmic inclusions, and axonal spheroids [Wider et al 2009]. TDP-43 pathology predominates in regions belonging to the extrapyramidal system including the substantia nigra, globus pallidus, striatum, and subthalamic nucleus. Interestingly, TDP-43-positive inclusions in persons with Perry syndrome resemble those found in ubiquitin-positive frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS), although with distinct regional distributions.

Genotype-Phenotype Correlations

Five mutations in DCTN1 have been associated with Perry syndrome (Table 2) [Farrer et al 2009]. No clear genotype-phenotype correlation exists, in that families/individuals with the same mutation in DCTN1 do not necessarily share the same phenotype.

Persons with Perry syndrome do not develop all of the cardinal manifestations. For example, individuals from the same family may not have hypoventilation and weight loss, and others may lack psychiatric symptoms [Wider et al 2010].

Penetrance

Although precise estimates have not been calculated given the limited number of families reported, penetrance is age-related and high, with all asymptomatic heterozygotes being younger than or within the range of onset age.

Anticipation

Anticipation is not observed in Perry syndrome.

Nomenclature

Perry syndrome was named after Professor Thomas L Perry, who reported with colleagues a large Canadian family with autosomal dominantly inherited parkinsonism, central hypoventilation, depression, weight loss, and sleep difficulties [Perry et al 1975, Perry et al 1990].

Some authors refer to Perry syndrome as “parkinsonism with alveolar hypoventilation and mental depression.” However, this designation does not include all the cardinal findings.

Prevalence

Since the original reports of Perry et al [1975] and Perry et al [1990], ten additional families have been reported from Canada, the US, the UK, Japan, France, and Turkey [Purdy et al 1979, Roy et al 1988, Lechevalier et al 1992, Tsuboi et al 2002, Lechevalier et al 2005, Wider & Wszolek 2008, Newsway et al 2010, Ohshima et al 2010, Saka et al 2010, Wider et al 2010].

Mutations in DCTN1 appear to be rare in neurodegenerative diseases: no pathogenic mutation was identified in a thorough sequencing study of 286 persons with familial Parkinson disease, TDP-43-positive FTLD, and ALS [Vilariño-Guell et al 2009].

Differential Diagnosis

Other forms of familial early-onset parkinsonism that need to be distinguished from Perry syndrome include those types caused by mutations in PARK2 (see Parkin Type of Early-Onset Parkinson Disease), PINK1 (see PINK1 Type of Young-Onset Parkinson Disease), PARK7 (formerly DJ-1), or LRRK2 (see LRRK2-Related Parkinson Disease). The findings of personality changes, weight loss, and hypoventilation in Perry syndrome tend to distinguish it from other forms of early-onset Parkinson disease (see Parkinson Disease Overview). Additionally, response to standard doses of levodopa is usually poorer or of shorter duration in Perry syndrome than in other forms of early-onset Parkinson disease.

Mood/personality changes in Perry syndrome may suggest frontotemporal dementia, which has similar age at onset and often associates with levodopa-resistant parkinsonism. Perry syndrome needs to be distinguished from frontotemporal dementia caused by mutations in MAPT (see MAPT-Related Disorders or in GRN (see GRN-Related Frontotemporal Dementia).

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Perry syndrome the following evaluations are recommended:

  • Neurologic evaluation of motor function
  • Sleep study and evaluation by a pulmonologist or sleep disorders consultant for ventilation support if required
  • Psychiatric evaluation, as well as neuropsychological examination if needed
  • Medical genetics consultation

Treatment of Manifestations

Parkinsonism. Dopaminergic therapy (particularly levodopa/carbidopa) should be considered in all individuals with significant parkinsonism. Response to levodopa is usually absent, erratic, or transient in Perry syndrome [Tsuboi et al 2002, Wider & Wszolek 2008]. More recently, however, large doses (>2g) of levodopa/carbidopa have been used successfully to reduce rigidity, tremor, and other symptoms in two patients, one from the new British kindred [Newsway et al 2010] and one from the original Canadian family [J Stoessl, personal communication].

Hypoventilation. Ventilation support (invasive or non-invasive) may prolong life expectancy and have a significant impact on quality of life. Several persons without evidence of daytime central hypoventilation or respiratory troubles died suddenly at night most likely as a result of nocturnal hypoventilation. Therefore, ventilation support may be needed only during sleep [Wider & Wszolek, personal observation].

Depression. Psychiatric manifestations may require antidepressants and psychiatric follow-up to help reduce risk of suicide.

Weight loss. Careful weight follow-up is indicated and high caloric intake should be considered if weight loss is present.

Prevention of Secondary Complications

Adequate caloric intake must be ensured to prevent weight loss.

Surveillance

Routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), motor function, and mood/personality changes is appropriate.

Agents/Circumstances to Avoid

Use of central respiratory depressants (e.g., benzodiazepines, alcohol, narcotics) should be minimized.

Evaluation of Relatives at Risk

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

Therapies Under Investigation

Search ClinicalTrials.gov 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.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, 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. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Perry syndrome is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

  • Individuals diagnosed with Perry syndrome usually have an affected parent.
  • A proband with Perry syndrome may have the disorder as the result of a new gene mutation. Because simplex cases (i.e., a single occurrence in a family) have not been evaluated sufficiently to determine if the mutation was de novo, the proportion of Perry syndrome caused by de novo mutations is unknown.
  • If the disease-causing mutation found in the proband cannot be detected in leukocyte DNA of either parent, two possible explanations are: (1) germline mosaicism in a parent or (2) a de novo mutation in the proband. Although no instances of germline mosaicism have been reported, it remains a possibility.
  • Recommendations for the evaluation of parents of a proband with an apparent de novo mutation include clinical and genetic evaluations. Evaluation of parents may determine that one is affected but has escaped previous diagnosis because a milder phenotypic presentation. Therefore, an apparently negative family history cannot be confirmed until appropriate evaluations have been performed.

Note: Although most individuals diagnosed with Perry syndrome have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, late onset of the disease in the affected parent, alternate paternity, donated egg transplanted to the mother, or undisclosed adaption.

Sibs of a proband

Offspring of a proband. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation.

Other family members. The risk to other family members depends on the status of the proband's parents. If a parent is affected, his or her family members may be at risk.

Related Genetic Counseling Issues

Considerations in families with an apparent de novo mutation. When neither parent of a proband with an autosomal dominant condition has the disease-causing mutation, it is likely that the proband has a de novo mutation. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal 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.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the disease-causing mutation in the family has been identified, prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at ~15-18 weeks’ gestation) or chorionic villus sampling (usually performed at ~10-12 weeks’ gestation).

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutation has been identified.

Resources

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)
    135 Parkinson Avenue
    Staten Island NY 10305
    Phone: 800-223-2732 (toll-free); 718-981-8001
    Fax: 718-981-4399
    Email: apda@apdaparkinson.org
  • Michael J. Fox Foundation for Parkinson's Research
    Church Street Station
    PO Box 780
    New York NY 10008-0780
    Phone: 800-708-7644 (toll-free)
    Email: info@michaeljfox.org
  • National Library of Medicine Genetics Home Reference
  • National Parkinson Foundation
    1501 Northwest 9th Avenue
    Bob Hope Road
    Miami FL 33136-1494
    Phone: 800-327-4545 (toll-free); 305-243-6666
    Fax: 305-243-6073
    Email: contact@parkinson.org
  • Parkinson's Disease Foundation (PDF)
    1359 Broadway
    Suite 1509
    New York NY 10018
    Phone: 800-457-6676 (Toll-free Helpline); 212-923-4700
    Fax: 212-923-4778
    Email: info@pdf.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. Perry Syndrome: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Perry Syndrome (View All in OMIM)

168605PERRY SYNDROME
601143DYNACTIN 1; DCTN1

Molecular Genetic Pathogenesis

DCTN1 encodes p150(glued), the major subunit of the dynactin protein [Farrer et al 2009]. The dynactin protein complex plays a major role in retrograde axonal and cytoplasmic transport of vesicles, organelles, and other cargoes. Its complex structure allows dynactin to bind microtubules, the motor dynein, and various cargoes. In vitro experiments have shown that DCTN1 mutations that cause Perry syndrome or HMN7B alter the ability of dynactin to bind microtubules, thereby impairing its function as a transport protein [Puls et al 2003, Levy et al 2006, Farrer et al 2009]. However, the link between DCTN1 mutations and neuronal dysfunction/death remains to be elucidated. In particular, the fact that mutations located close to each other on the same gene cause completely different diseases (Perry syndrome and HMN7B) with distinct regional specificity constitutes a challenging puzzle [Wider et al 2010].

Normal allelic variants. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. The reference sequence NM_004082.3 is known as isoform 1; details of other isoforms are available at Entrez Gene.

Pathologic allelic variants. See Table 2.

Table 2. DCTN1 Pathologic Allelic Variants Discussed in This GeneReview

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.175G>Ap.Gly59SerNM_004082​.4
NP_004073​.2
c.211G>Ap.Gly71Arg
c.212G>Ap.Gly71Glu
c.212G>Cp.Gly71Ala
c.214A>Cp.Thr72Pro
c.221A>Cp.Gln74Pro

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

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

Normal gene product. DCTN1 encodes p150(glued), the major subunit of the dynactin protein complex, which plays an important role in axonal and cytoplasmic transport.

Abnormal gene product. DCTN1 harboring point mutations that cause Perry syndrome and HMN7B encode a truncated form of p150(glued), which alters the affinity of dynactin for microtubules.

References

Literature Cited

  1. Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009;41:163–5. [PMC free article: PMC2813485] [PubMed: 19136952]
  2. Lechevalier B, Chapon F, Defer G, Rivrain Y, Le Doze F, Schupp C, Viader F. Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia). Bull Acad Natl Med. 2005;189:481–90. [PubMed: 16149212]
  3. Lechevalier B, Schupp C, Fallet-Bianco C, Viader F, Eustache F, Chapon F, Morin P. Familial parkinsonian syndrome with athymhormia and hypoventilation. Rev Neurol. 1992;148:39–46. [PubMed: 1604112]
  4. Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol. 2006;172:733–45. [PMC free article: PMC2063705] [PubMed: 16505168]
  5. Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord. 2010;25:767–70. [PubMed: 20437543]
  6. Ohshima S, Tsuboi Y, Yamamoto A, Kawakami M, Farrer MJ, Kira J, Shii H. Autonomic failures in Perry syndrome with DCTN1 mutation. Parkinsonism Relat Disord. 2010;16:612–4. [PubMed: 20702129]
  7. Perry TL, Bratty PJ, Hansen S, Kennedy J, Urquhart N, Dolman CL. Hereditary mental depression and Parkinsonism with taurine deficiency. Arch Neurol. 1975;32:108–13. [PubMed: 1122173]
  8. Perry TL, Wright JM, Berry K, Hansen S, Perry TL. Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology. 1990;40:1882–7. [PubMed: 2247238]
  9. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003;33:455–6. [PubMed: 12627231]
  10. Puls I, Oh SJ, Sumner CJ, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol. 2005;57:687–94. [PMC free article: PMC1351270] [PubMed: 15852399]
  11. Purdy A, Hahn A, Barnett HJ, Bratty P, Ahmad D, Lloyd KG, McGeer EG, Perry TL. Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol. 1979;6:523–31. [PubMed: 43704]
  12. Roy EP 3rd, Riggs JE, Martin JD, Ringel RA, Gutmann L. Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. Neurology. 1988;38:637–9. [PubMed: 3352925]
  13. Saka E, Topcuoglu MA, Demir AU, Elibol B. Transcranial sonography in Perry syndrome. Parkinsonism Relat Disord. 2010;16:68–70. [PubMed: 19505837]
  14. Tsuboi Y, Dickson DW, Nabeshima K, Schmeichel AM, Wszolek ZK, Yamada T, Benarroch EE. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol. 2008;115:263–8. [PubMed: 17576579]
  15. Tsuboi Y, Wszolek ZK, Kusuhara T, Doh-ura K, Yamada T. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology. 2002;58:1025–30. [PubMed: 11940687]
  16. Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 2009;72:2024–8. [PMC free article: PMC2692178] [PubMed: 19506225]
  17. Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci. 2010;289:149–54. [PMC free article: PMC2813334] [PubMed: 19732908]
  18. Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, Brown L, Calne S, Farrer MJ, Wszolek ZK. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord. 2009;15:281–6. [PMC free article: PMC2693935] [PubMed: 18723384]
  19. Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord. 2008;14:1–7. [PubMed: 17870652]

Chapter Notes

Acknowledgments

Dr. Wszolek is supported by NIH/NINDS P50NS072187, Mayo Center for Regenerative Medicine; Dystonia Medical Research Foundation; and Carl Edward Bolch, Jr. and Susan Bass Bolch Gift.

Dr. Wider is supported by the Leenaards Foundation.

Revision History

  • 9 May 2013 (me) Comprehensive update posted live
  • 30 September 2010 (me) Review posted live
  • 3 May 2010 (cw) Original submission
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