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

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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Bibliographic Details
Main Authors: Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews
Format: Article
Language:English
Published: Karger Publishers 2023-06-01
Series:Case Reports in Neurology
Subjects:
juvenile amyotrophic lateral sclerosis
sptlc1
neuromuscular
case report
Online Access:https://beta.karger.com/Article/FullText/530974

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https://beta.karger.com/Article/FullText/530974

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