A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis

Autor:	Xiaoxuan, Liu, Ji, He, Weiyi, Yu, Dongsheng, Fan
Rok vydání:	2022
Předmět:	Neurology Amyotrophic Lateral Sclerosis Mutation Serine C-Palmitoyltransferase Humans Female Neurology (clinical) Hereditary Sensory and Autonomic Neuropathies Child
Zdroj:	Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 23:634-637
ISSN:	2167-9223 2167-8421
DOI:	10.1080/21678421.2022.2096409
Popis:	iSPTLC1/ihas been implicated in hereditary sensory and autonomic neuropathy type 1 (HSAN1) and macular telangiectasia type2. Recent studies have reported mutations iniSPLTC1/imay cause juvenile amyotrophic lateral sclerosis (JALS), especially in the first transmembrane domain ofiSPTLC1/i(exon 2). In this study, we identified a novel heterozygous variant in exon 2, c.113 T gt; C: p. Leu38Arg, ofiSPTLC1/iin a 12-year-old girl with sporadic JALS who experienced early-childhood-onset lower extremity spasticity followed by slowly progressive lower motor weakness and atrophy without sensory symptoms or signs.iSPLTC1/iis the first monogenic lipid metabolic disturbance that has been linked to ALS. The variant in exon 2 may impact on negative regulation of sphingolipid biosynthesis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6121f8b9e7994691688e0f6446f875b8 https://doi.org/10.1080/21678421.2022.2096409 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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