A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2096409
Abstract: Abstract SPTLC1 has been implicated in hereditary sensory and autonomic neuropathy type 1 (HSAN1) and macular telangiectasia type2. Recent studies have reported mutations in SPLTC1 may cause juvenile amyotrophic lateral sclerosis (JALS), especially in the… read more here.
Keywords: sptlc1; lateral sclerosis; girl sporadic; juvenile amyotrophic ... See more keywords
A case of familial Flegel's disease caused by a novel splicing variant in SPTLC1.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad061
Abstract: Flegel’s disease is a rare keratinization disorder characterized by multiple asymptomatic papules predominantly distributed on the distal extremities. Very recently, variants in SPTLC1, which encodes serine palmitoyltransferase, long chain base subunit-1 (SPTLC1), have been demonstrated… read more here.
Keywords: flegel disease; sptlc1; caused novel; case ... See more keywords
Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations
Sign Up to like & getrecommendations! Published in 2023 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002495
Abstract: 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… read more here.
Keywords: sptlc1; jals patients; lateral sclerosis; fus mutations ... See more keywords