Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

doi:10.1016/S1474-4422(13)70104-2

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Article

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

The Lancet. Neurology - 1 Jul 2013

Jacobi Heike, Reetz Kathrin, du Montcel Sophie Tezenas, Bauer Peter, Mariotti Caterina, Nanetti Lorenzo, Rakowicz Maria, Sulek Anna, Durr Alexandra, Charles Perrine, Filla Alessandro, Antenora Antonella, Schöls Ludger, Schicks Julia, Infante Jon, Kang Jun-Suk, Timmann Dagmar, Di Fabio Roberto, Masciullo Marcella, Baliko Laszlo, Melegh Bela, Boesch Sylvia, Bürk Katrin, Peltz Annkathrin, Schulz Jörg B, Dufaure-Garé Isabelle, Klockgether Thomas

Abstract excerpt

BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited, fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6. METHODS: Between Sept 13, 2008, and Dec 1, 2011, offspring or siblings of pat...

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PMID: 23707147
DOI: 10.1016/S1474-4422(13)70104-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23707147-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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