Article

Mutations in the <i>SPTLC1</i> gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

2019-09-19

Abstract excerpt

Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of childhood motor disorder with a heterogeneous clinical presentation. The underlying causes of this condition are poorly understood, hindering the development of effective therapies. In a whole-exome sequencing trio-family study of three unrelated juvenile patients diagnosed with ALS and failure to thrive, we identified de-novo mutations in SPTLC1 (p.A...

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Literature Corpus work: c9e87aa2-156b-5734-9df2-e041e9f18540
DOI: 10.1101/770339

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