Perry syndrome
अंतिम अद्यतन 18 Aug 2020
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Perry syndrome is a progressive brain disease that is characterised 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.
विवरण
Perry syndrome is a progressive brain disease that is characterised 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 behaviour. 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Parkinsonism with alveolar hypoventilation and mental depression
Related patient information and medicines
Patient information leaflet
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अधिक पठन और संदर्भ
- Perry syndrome; MedlinePlus, National Library of Medicine.
- Chung EJ, Hwang JH, Lee MJ, Hong JH, Ji KH, Yoo WK, Kim SJ, Song HK, Lee CS, Lee MS, Kim YJ. Expansion of the clinicopathological and mutational spectrum of Perry syndrome. Parkinsonism Relat Disord. 2014 Apr;20(4):388-93. doi: 10.1016/j.parkreldis.2014.01.010. Epub 2014 Jan 22.
- Dulski J, Konno T, Wszolek Z. DCTN1-Related Neurodegeneration. 2010 Sep 30 [updated 2021 Aug 5]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK47027/
- Farrer MJ, Hulihan MM, Kachergus JM, Dachsel 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, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11.
- 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 Feb;115(2):263-8. doi: 10.1007/s00401-007-0246-1. Epub 2007 Jun 19.
- Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci. 2010 Feb 15;289(1-2):149-54. doi: 10.1016/j.jns.2009.08.044. Epub 2009 Sep 4.
- 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 May;15(4):281-6. doi: 10.1016/j.parkreldis.2008.07.005. Epub 2008 Aug 23.
- 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):1-7. doi: 10.1016/j.parkreldis.2007.07.014. Epub 2007 Sep 17.
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