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Article

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.

Annals of neurology - 1 Apr 2020

Grunseich Christopher, Patankar Aneesh, Amaya Joshua, Watts Jason A, Li Dongjun, Ramirez Prisila, Schindler Alice B, Fischbeck Kenneth H, Cheung Vivian G

Abstract excerpt

OBJECTIVE: To determine the clinical and molecular features in patients with amyotrophic lateral sclerosis 4 (ALS4) due to mutations in the senataxin (SETX) gene and to develop tools for evaluating SETX variants. METHODS: Our study involved 32 patients, including 31 with mutation in SETX at c.1166 T>C (p.Leu389Ser) and 1 with mutation at c.1153 G>A (p.Glu385Lys). Clinical characterization of the patients included...

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Identifiers

PMID: 31957062
DOI: 10.1002/ana.25681
PMCID: PMC7818251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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