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Genetics Home Reference: your guide to understanding genetic conditions
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Perry syndrome

Reviewed February 2011

What is Perry syndrome?

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.

How common is Perry syndrome?

Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.

What genes are related to Perry syndrome?

Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain.

Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.

Related Gene(s)

Changes in this gene are associated with Perry syndrome.

  • DCTN1

How do people inherit Perry syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person inherits the mutation from one affected parent. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Perry syndrome?

These resources address the diagnosis or management of Perry syndrome and may include treatment providers.

  • Gene Review: Perry Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK47027)
  • Genetic Testing Registry: Perry syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1868594)
  • MedlinePlus Encyclopedia: Major Depression (http://www.nlm.nih.gov/medlineplus/ency/article/000945.htm)
  • MedlinePlus Encyclopedia: Primary Alveolar Hypoventilation (http://www.nlm.nih.gov/medlineplus/ency/article/000078.htm)
  • National Parkinson Foundation: Treatment (http://www.parkinson.org/Parkinson-s-Disease/Treatment)

You might also find information on the diagnosis or management of Perry syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/perry-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/perry-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Perry syndrome?

You may find the following resources about Perry syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Perry syndrome?

  • parkinsonism with alveolar hypoventilation and mental depression

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Perry syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Perry syndrome?

alveolar hypoventilation ; autosomal ; autosomal dominant ; bradykinesia ; cell ; depression ; gene ; hypoventilation ; inherited ; locus ; mutation ; oxygen ; parkinsonism ; pneumonia ; protein ; respiratory ; substantia nigra ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11. (http://www.ncbi.nlm.nih.gov/pubmed/19136952?dopt=Abstract)
  • Gene Review: Perry Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK47027)
  • 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. Epub 2007 Jun 19. (http://www.ncbi.nlm.nih.gov/pubmed/17576579?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19732908?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18723384?dopt=Abstract)
  • 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. Epub 2007 Sep 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17870652?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2011
Published: September 15, 2014