Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associate...

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Detalles Bibliográficos
Autores principales: Ajjarapu, Aparna, Feely, Shawna M.E., Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Single Case – General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368087/
https://www.ncbi.nlm.nih.gov/pubmed/37497262
http://dx.doi.org/10.1159/000530974

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