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Article

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

Journal of neurology - 1 Jan 2024

Gorcenco Sorina, Kafantari Efthymia, Wallenius Joel, Karremo Christin, Alinder Erik, Dobloug Sigurd, Landqvist Waldö Maria, Englund Elisabet, Ehrencrona Hans, Wictorin Klas, Karrman Kristina, Puschmann Andreas

Abstract excerpt

Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause of the patient's disease. We compiled a consecutive single-center series of 87 patients from 76 families with progressive ataxia of known or unknown etiology. We investigated...

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Identifiers

PMID: 37787810
DOI: 10.1007/s00415-023-11990-x
PMCID: PMC10770240

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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