Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 23/12/2008
Symbol ALS4
Location 9q34.13
Name familial amyotrophic lateral sclerosis 4
Corresponding gene SETX
Other symbol(s) TALS2
Main clinical features
  • neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis
  • juvenile type, slow progression
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name senataxin
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/gain of function causing a toxic gain of function