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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 210 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))