Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-07-2017

Symbol	ALS5
Location	15q21.1
HGNC id	446
Name	familial amyotrophic lateral sclerosis 5
Corresponding gene	SPG11
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 and slow progression onset of upper and lower motor neuron signs before age 25 progressive spasticity of limb and facial muscles associated with distal amyotrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)