Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

doi:10.1212/WNL.0000000000004311

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Article

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Neurology - 5 Sept 2017

Giordano Ilaria, Harmuth Florian, Jacobi Heike, Paap Brigitte, Vielhaber Stefan, Machts Judith, Schöls Ludger, Synofzik Matthis, Sturm Marc, Tallaksen Chantal, Wedding Iselin M, Boesch Sylvia, Eigentler Andreas, van de Warrenburg Bart, van Gaalen Judith, Kamm Christoph, Dudesek Ales, Kang Jun-Suk, Timmann Dagmar, Silvestri Gabriella, Masciullo Marcella, Klopstock Thomas, Neuhofer Christiane, Ganos Christos, Filla Alessandro, Bauer Peter, Tezenas du Montcel Sophie, Klockgether Thomas

Abstract excerpt

OBJECTIVE: To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. METHODS: The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. RESULTS:...

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PMID: 28794257
DOI: 10.1212/WNL.0000000000004311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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