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GENATLAS PHENOTYPE

last update : 12-12-2012

Symbol	ALS8
Location	20q13.32
Name	familial amyotrophic lateral sclerosis 8
Corresponding gene	VAPB
Main clinical features	neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis progressive muscular atrophy, progressive bulbar palsy, onset occuring between 31 and 45 years and slow progression muscular atrophy and weakness, accompanied by fasciculation and spasticity, and a rapid and progressive degeneration of motor neurons in the cortex, brainstem and spinal cord
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	VAMP (vesicle-associated membrane protein)-associated protein B and C, missense mutation

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