Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

doi:10.1136/jmedgenet-2013-102200

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Article

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Journal of medical genetics - 1 Jul 2014

Tezenas du Montcel Sophie, Durr Alexandra, Rakowicz Maria, Nanetti Lorenzo, Charles Perrine, Sulek Anna, Mariotti Caterina, Rola Rafal, Schols Ludger, Bauer Peter, Dufaure-Garé Isabelle, Jacobi Heike, Forlani Sylvie, Schmitz-Hübsch Tanja, Filla Alessandro, Timmann Dagmar, van de Warrenburg Bart P, Marelli Cecila, Kang Jun-Suk, Giunti Paola, Cook Arron, Baliko Laszlo, Melegh Béla, Bela Melegh, Boesch Sylvia, Szymanski Sandra, Berciano José, Infante Jon, Buerk Katrin, Masciullo Marcella, Di Fabio Roberto, Depondt Chantal, Ratka Susanne, Stevanin Giovanni, Klockgether Thomas, Brice Alexis, Golmard Jean-Louis

Abstract excerpt

BACKGROUND: The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset. METHODS: We combined data from two major European cohorts of...

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PMID: 24780882
DOI: 10.1136/jmedgenet-2013-102200
PMCID: PMC4078703

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