Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion ten...

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Veröffentlicht in:	Neurogenetics 2020, Vol.21 (1), p.51-58
Hauptverfasser:	Palvadeau, R., Kaya-Güleç, Z. E., Şimşir, G., Vural, A., Öztop-Çakmak, Ö., Genç, G., Aygün, M. S., Falay, O., Başak, A. Nazlı, Ertan, S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Apraxia Ataxia Biomedical and Life Sciences Biomedicine Cerebellar ataxia Cerebellum Chorea Cognitive ability Computed tomography Differential diagnosis Dystonia Extrapyramidal system Human Genetics Magnetic resonance imaging Molecular Medicine Mutation Neuroimaging Neurosciences NMR Nuclear magnetic resonance Original Article Single photon emission computed tomography Ubiquitin Ubiquitin-protein ligase
Online-Zugang:	Volltext
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