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GENATLAS PHENOTYPE

last update : 13-05-2009

Symbol	PERS
Location	2p13.1
Name	Perry syndrome
Corresponding gene	DCTN1
Main clinical features	began late in the fifth decade earliest and most prominent symptom was mental depression not responsive to antidepressant drugs or electroconvulsive therapy; sleep disturbances, hypoventilation late and predominantly nocturnal that leads to respiratory insufficiency, insomnia and ultimately death within 2–10 years; parkinsonism developed later, and respiratory failure occurred terminally
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

mutations affecting the CAP-Gly domain of DCTN1 are likely to disrupt many physiologically relevant moderate-affinity interactions of DCTN1 with its binding partners (PMID: 19136952))