Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.

ABSTRACT:

Background

Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations.

Methods

Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School

SUBMITTER: Wang P 

PROVIDER: S-EPMC10106144 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature