Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
| Autor: | María García-Murias, Rocío Martínez-Regueiro, M. Pardo, Raquel Cruz, Manuel Arias, Angel Carracedo, Beatriz Quintáns, María-Jesús Sobrido, Montse Fernández-Prieto, J. Pardo, T. Labella-Caballero |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Cerebellum medicine.medical_specialty Neurology Ataxia Audiology 050105 experimental psychology 03 medical and health sciences 0302 clinical medicine Cerebellar Diseases Medicine Verbal fluency test Humans Spinocerebellar Ataxias 0501 psychology and cognitive sciences Depression (differential diagnoses) Aged business.industry Mood Disorders 05 social sciences Nuclear Proteins Cognition Middle Aged medicine.disease medicine.anatomical_structure Cerebellar cognitive affective syndrome Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom business Cognition Disorders 030217 neurology & neurosurgery |
| Zdroj: | Cerebellum (London, England). 19(4) |
| ISSN: | 1473-4230 |
| Popis: | SCA36 is an autosomal dominant spinocerebellar ataxia (SCA) affecting many families from Costa da Morte, a northwestern region of Spain. It is caused by an intronic GGCCTG repeat expansion in NOP56. In order to characterize the cognitive and affective manifestations of this cerebellar disease, a group of 30 SCA36 mutation carriers (11 preataxic and 19 ataxic patients) were assessed with a comprehensive battery of standardized tests. Phonological verbal fluency – but not semantic fluency – was already mildly impaired in preataxic subjects. In ataxic patients, both phonological and semantic fluencies were significantly below normal. Depression, while more frequent and prominent in ataxic patients, was also often present in the preataxic stage. This is the first systematic study supporting the presence of a mild cerebellar cognitive and affective syndrome in SCA36. Routine evaluation of cognitive and emotional spheres in SCA36 patients as well as asymptomatic mutation carriers should allow early detection and timely therapeutic intervention. |
| Databáze: | OpenAIRE |
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