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.

Source: Advocacy organizations associated with the condition.

 

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 7 free, full-text research articles on human participants. First 3 results:

Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.
 

Author(s): Takayasu Mishima, Shunsuke Koga, Wen-Lang Lin, Koji Kasanuki, Monica Castanedes-Casey, Zbigniew K Wszolek, Shin J Oh, Yoshio Tsuboi, Dennis W Dickson

Journal: J. Neuropathol. Exp. Neurol.. 2017 Aug;76(8):676-682.

 

Perry syndrome is a rare atypical parkinsonism with depression, apathy, weight loss, and central hypoventilation caused by mutations in dynactin p150glued (DCTN1). A rare distal hereditary motor neuropathy, HMN7B, also has mutations in DCTN1. Perry syndrome has TAR DNA-binding protein ...

Last Updated: 31 Dec 1969

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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 Castañeda 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: 31 Dec 1969

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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 Castañeda Cardona, Pawel Tacik, Owen A Ross, Zbigniew K Wszolek

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

 

Last Updated: 31 Dec 1969

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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 1 free, full-text review articles on human participants. First 3 results:

DCTN1-related neurodegeneration: Perry syndrome and beyond.
 

Author(s): Takuya Konno, Owen A Ross, Hélio A G Teive, Jarosław Sławek, Dennis W Dickson, Zbigniew K Wszolek

Journal: Parkinsonism Relat. Disord.. 2017 Aug;41():14-24.

 

Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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