Perry syndrome

Common Name(s)

Perry syndrome

Perry syndrome(PS) is a rare genetic disorder that affects cells in the brain that send signals to the rest of body (neurons). The main characteristics of PS include abnormal movements (parkinsonism), slow breathing (hypoventilation), weight loss, and abnormal behaviors (psychiatric changes). Parkinsonism in PS, which causes a person to have shakes (tremors), slowed movements, and muscle stiffness, is usually accompanied by psychiatric changes, including depression, withdrawal from friends and friendly, along with suicidal thoughts. Hypoventilation is usually present later in the disease and tends to affect a person while they are sleeping. PS is a severe condition and the average survival time is 5 years after the first symptoms are seen.

PS is caused by a change (mutation) in the DCTN1 gene and is inherited in an autosomal dominant manner, which means a mutation in one of the two copies of the gene a person has is enough to cause the disorder. If a parent has PS, each one of their children has a 50% chance of inheriting the PS causing mutation. The diagnosis of PS is considered in an adult who has movement issues and changes to their personality. Since the symptoms of PS are seen in many other genetic and neurological diseases, a doctor may order tests to rule out other conditions, including imaging tests, such as a brain MRI. Genetic testing is used to confirm the diagnosis.

There is currently no cure for PS, but there are medications and therapies available to help address, and possibly slow down, symptoms of the condition. Breathing machines (ventilators) are used to help with hypoventilation. If you have been diagnosed with PS, talk to your doctor about all current treatment options. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for PS. Support groups can provide additional information.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Perry syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Perry syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Three families with Perry syndrome from distinct parts of the world.
 

Author(s): Pawel Tacik, Fabienne C Fiesel, Shinsuke Fujioka, Owen A Ross, Felipe Pretelt, Camilo CastaƱeda Cardona, Alexa Kidd, Michael Hlavac, Anthony Raizis, Michael S Okun, Sharleen Traynor, Audrey J Strongosky, Wolfdieter Springer, Zbigniew K Wszolek

Journal: Parkinsonism Relat. Disord.. 2014 Aug;20(8):884-8.

 

Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene ...

Last Updated: 6 Aug 2014

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Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency.
 

Author(s): Felipe Pretelt, Camilo CastaƱeda Cardona, Pawel Tacik, Owen A Ross, Zbigniew K Wszolek

Journal: J. Neurol.. 2014 Mar;261(3):620-1.

 

Last Updated: 10 Mar 2014

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Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
 

Author(s): Victoria Newsway, Mark Fish, Jonathan D Rohrer, Elisa Majounie, Nigel Williams, Melissa Hack, Jason D Warren, Huw R Morris

Journal: Mov. Disord.. 2010 Apr;25(6):767-70.

 

Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously ...

Last Updated: 3 May 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Perry syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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