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GENATLAS PHENOTYPE
last update : 23/12/2008
Symbol ALS9
Location 14q11.2
Name amyotrophic lateral sclerosis 9
Corresponding gene ANG
Main clinical features
  • neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis
  • rapidly progressive loss of motor function with predominantly lower motor neuron manifestations and a course of less than 5 years
  • pathologic changes are limited to the anterior horn cells and pyramidal tracts
    • Genetic determination autosomal dominant
    multigenic
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense      
    Remark(s)