Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

ABSTRACT:

Importance

Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective

To identify the genetic variants associated with juvenile ALS.

Design, setting, and participants

In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A

SUBMITTER: Johnson JO 

PROVIDER: S-EPMC8406220 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature