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GENATLAS PHENOTYPE

last update : 29-08-2023

Symbol	ALS27
Location	3q22.31
Name	amyotrophic lateral sclerosis 27, juvenile
Corresponding gene	SPTLC1
Main clinical features	juvenile amyotrophic lateral sclerosis (ALS) , a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. childhood amyotrophic lateral sclerosis is caused by excess sphingolipid synthesis, and SPTLC1 variants that result in unrestrained sphingoid base synthesis cause this monogenic form of ALS (PMID: 34059824))