Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

• Published in: Brain (London, England : 1878) Vol. 136; no. Pt 3; pp. 905 - 917
• Main Authors: REETZ, Kathrin, COSTA, Ana S, GRISOLI, Marina, DÜRR, Alexandra, VAN DE WARRENBURG, Bart P, TIMMANN, Dagmar, PANDOLFO, Massimo, BAUER, Peter, JACOBI, Heike, HAUSER, Till-Karsten, KLOCKGETHER, Thomas, SCHULZ, Jörg B, MIRZAZADE, Shahram, LEHMANN, Anna, JUZEK, Agnes, RAKOWICZ, Maria, BOGUSLAWSKA, Romana, SCHÖLS, Ludger, LINNEMANN, Christoph, MARIOTTI, Caterina
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.03.2013
• Subjects: Adult; Ataxin; Atrophy; Atrophy - pathology; Basal ganglia; Biological and medical sciences; Brain; Brain - pathology; Brain stem; Cerebellum; Clinical trials; Data acquisition; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Disease Progression; Female; Genotype; Genotypes; Globus pallidus; Hereditary diseases; Humans; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Morphometry; Neostriatum; Neuroimaging; Neurology; Pons; Putamen; Spinocerebellar Ataxias - complications; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - pathology; Thalamus; Trinucleotide repeats; Volumetric analysis; Nervous system diseases; volumetry; neurodegeneration; Genotype; voxel-based morphometry; Genetic disease; Atrophy; Spinocerebellar ataxia; Voxel; Central nervous system disease; Degenerative disease; Morphometry

Spinocerebellar ataxias are dominantly inherited disorders that are associated with progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of the multicentre European integrated project on spinocerebellar ataxias study, 37 patients with spinocerebellar ataxia-1, 19 wi...