Article
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
The Lancet. Neurology - 1 Sept 2020
Jacobi Heike, du Montcel Sophie Tezenas, Romanzetti Sandro, Harmuth Florian, Mariotti Caterina, Nanetti Lorenzo, Rakowicz Maria, Makowicz Grzegorz, Durr Alexandra, Monin Marie-Lorraine, Filla Alessandro, Roca Alessandro, Schöls Ludger, Hengel Holger, Infante Jon, Kang Jun-Suk, Timmann Dagmar, Casali Carlo, Masciullo Marcella, Baliko Laszlo, Melegh Bela, Nachbauer Wolfgang, Bürk-Gergs Katrin, Schulz Jörg B, Riess Olaf, Reetz Kathrin, Klockgether Thomas
Abstract excerpt
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA2, SCA3, and SCA6), and the sensitivity of clinical and functional measures to detect change in these individuals. METHODS: In this prospective, longitudinal, observational...
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