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Perry syndrome

MedGen UID:
357007
Concept ID:
C1868594
Disease or Syndrome
Synonyms: Parkinsonism with alveolar hypoventilation and mental depression
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Perry syndrome (699184009); Parkinsonism with alveolar hypoventilation and mental depression (699184009)
 
Gene (location): DCTN1 (2p13.1)
OMIM®: 168605
Orphanet: ORPHA178509

Disease characteristics

Excerpted from the GeneReview: Perry Syndrome
Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 49 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. [from GeneReviews]
Authors:
Zbigniew Wszolek  |  Takuya Konno   view full author information

Additional descriptions

From OMIM
Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (Perry et al., 1975). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., 600274) and progressive supranuclear palsy (PSP; 601104). There is intrafamilial variation in the manifestations of the disorder (summary by Caroppo et al., 2014; review by Wider et al., 2010). Mutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; 607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see 105400).  http://www.omim.org/entry/168605
From GHR
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease.Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure.People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.  https://ghr.nlm.nih.gov/condition/perry-syndrome

Clinical features

Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Decrease in existing BODY WEIGHT.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
Hypoventilation
MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Weak voice
MedGen UID:
66033
Concept ID:
C0241700
Sign or Symptom
Reduced intensity (volume) of speech.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Perry syndrome in Orphanet.

Recent clinical studies

Etiology

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
Neurology 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. PMID: 19506225Free PMC Article

Diagnosis

Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, Castañeda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK
Parkinsonism Relat Disord 2014 Aug;20(8):884-8. Epub 2014 May 13 doi: 10.1016/j.parkreldis.2014.05.004. PMID: 24881494Free PMC Article
Araki E, Tsuboi Y, Daechsel J, Milnerwood A, Vilarino-Guell C, Fujii N, Mishima T, Oka T, Hara H, Fukae J, Farrer MJ
Mov Disord 2014 Aug;29(9):1201-4. Epub 2014 Feb 22 doi: 10.1002/mds.25833. PMID: 24676999
Aji BM, Medley G, O'Driscoll K, Larner AJ, Alusi SH
J Neurol Sci 2013 Jul 15;330(1-2):117-8. Epub 2013 Apr 28 doi: 10.1016/j.jns.2013.04.008. PMID: 23628468
Wider C, Wszolek ZK
Parkinsonism Relat Disord 2008;14(1):1-7. Epub 2007 Sep 17 doi: 10.1016/j.parkreldis.2007.07.014. PMID: 17870652
Tsuboi Y, Dickson DW, Nabeshima K, Schmeichel AM, Wszolek ZK, Yamada T, Benarroch EE
Acta Neuropathol 2008 Feb;115(2):263-8. Epub 2007 Jun 19 doi: 10.1007/s00401-007-0246-1. PMID: 17576579

Therapy

Felicio AC, Dinelle K, Agarwal PA, McKenzie J, Heffernan N, Road JD, Appel-Cresswell S, Wszolek ZK, Farrer MJ, Schulzer M, Sossi V, Stoessl AJ
Mov Disord 2014 Aug;29(9):1197-201. Epub 2014 May 5 doi: 10.1002/mds.25893. PMID: 24797316Free PMC Article
Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR
Mov Disord 2010 Apr 30;25(6):767-70. doi: 10.1002/mds.22950. PMID: 20437543Free PMC Article

Prognosis

Aji BM, Medley G, O'Driscoll K, Larner AJ, Alusi SH
J Neurol Sci 2013 Jul 15;330(1-2):117-8. Epub 2013 Apr 28 doi: 10.1016/j.jns.2013.04.008. PMID: 23628468

Clinical prediction guides

Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO
Mol Med Rep 2016 Oct;14(4):3362-8. Epub 2016 Aug 22 doi: 10.3892/mmr.2016.5664. PMID: 27573046
Araki E, Tsuboi Y, Daechsel J, Milnerwood A, Vilarino-Guell C, Fujii N, Mishima T, Oka T, Hara H, Fukae J, Farrer MJ
Mov Disord 2014 Aug;29(9):1201-4. Epub 2014 Feb 22 doi: 10.1002/mds.25833. PMID: 24676999
Chung EJ, Hwang JH, Lee MJ, Hong JH, Ji KH, Yoo WK, Kim SJ, Song HK, Lee CS, Lee MS, Kim YJ
Parkinsonism Relat Disord 2014 Apr;20(4):388-93. Epub 2014 Jan 22 doi: 10.1016/j.parkreldis.2014.01.010. PMID: 24484619
Saka E, Topcuoglu MA, Demir AU, Elibol B
Parkinsonism Relat Disord 2010 Jan;16(1):68-70. Epub 2009 Jun 7 doi: 10.1016/j.parkreldis.2009.05.010. PMID: 19505837
Wider C, Wszolek ZK
Parkinsonism Relat Disord 2008;14(1):1-7. Epub 2007 Sep 17 doi: 10.1016/j.parkreldis.2007.07.014. PMID: 17870652

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