Juvenile amyotrophic lateral sclerosis caused by a mutation in the SPTLC2 gene: case presentation

Abstract

Juvenile amyotrophic lateral sclerosis (ALS) is a rare group of motor neuron diseases, with the age of onset up to 25 years. Juvenile ALS more commonly has genetic origin vs. sporadic forms of ALS that develop in adulthood. Genetic analysis of these cases with early onset makes it possible to identify the genes responsible for the disease. Here we present a case of a rare variant of juvenile ALS caused due to the SPTLC2 gene mutation.
 Cases with early disease onset are characterized by slow progression and variable phenotype, which often makes accurate diagnosis challenging. Therefore patients with combined upper and lower motor neuron disorders aged under 25 years should undergo comprehensive examination, in particular to identify gene mutations.