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Article

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

Chinese medical journal - 20 Jan 2023

Wang Peishan, Wei Qiao, Li Hongfu, Wu Zhi-Ying

Abstract excerpt

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...

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Identifiers

PMID: 36801857
DOI: 10.1097/CM9.0000000000002495
PMCID: PMC10106144

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