Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.

ABSTRACT:

Introduction

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. Pathogenic variants in SPTLC1, encoding a subunit of serine palmitoyltransferase, cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), and have recently been associated with juvenile ALS. SPTLC1 variants associated with ALS cause elevated levels of sphinganines and ceramides. Reports on ALS associated with SPTLC1 remain limited. This study aimed to investigate the frequency of SPTLC1 variants in ALS and relevant clinical characteristics.

Methods

We analyzed whole-exome and whole-genome sequence data from 40 probands with familial ALS and 413 patients with sporadic ALS without previously identified causative variants. Reverse transcription polymerase

SUBMITTER: Okubo S 

PROVIDER: S-EPMC11638311 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature