Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

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 me...

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Veröffentlicht in:	Lancet neurology 2020-09, Vol.19 (9), p.738-747
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Ataxia Ataxin Brain Children Clinical trials Cohort analysis Education Genetic screening Life Sciences Longitudinal studies Machado-Joseph disease Mutation Neurodegenerative diseases Patients Polyglutamine Questionnaires Rare diseases Restless legs syndrome Siblings Spinocerebellar ataxia Trinucleotide repeat diseases Trinucleotide repeats
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