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GENATLAS PHENOTYPE

last update : 24-12-2012

Symbol	ALS15
Location	Xp11.21
Name	amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Corresponding gene	UBQLN2
Main clinical features	neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis age of onset of disease ranged from 15 to 70 years associated to dementia in any patients, similar to frontotemporal lobar type transmitted in a dominant fashion with reduced penetrance in females
Genetic determination	autosomal dominant
	sex linked
Function/system disorder	neurology
Type	disease

Remark(s)

mutations in ubiquilin 2 lead to ubiquitin-mediated impairment of proteasomal degradation (PMID: 21857683))