Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm
| Autor: | Espen Dietrichs, Chantal M. E. Tallaksen, Iselin M Wedding, Nils Inge Landrø, Jeanette Koht |
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| Jazyk: | angličtina |
| Předmět: |
Adult
Male medicine.medical_specialty Ataxia Adolescent Population Clinical Neurology Neuropsychological Tests Audiology Severity of Illness Index Executive Function Young Adult Cognition Memory Reference Values Cerebellum Protein kinase C γ Humans Spinocerebellar Ataxias Medicine First-degree relatives education Psychiatry Cognitive deficit Spinocerebellar Degenerations Family Health Psychomotor learning education.field_of_study Norway business.industry General Medicine Middle Aged medicine.disease Executive functions Magnetic Resonance Imaging SCA14 Case-Control Studies Visual Perception Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom Cognition Disorders business Psychomotor Performance Research Article Executive dysfunction |
| Zdroj: | BMC Neurology |
| ISSN: | 1471-2377 |
| DOI: | 10.1186/1471-2377-13-186 |
| Popis: | Background: There is an increasing awareness of the role of the cerebellum not only in motor, but also in cognitive and emotional functions. Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant hereditary ataxia characterized by a relatively pure cerebellar phenotype. Cognitive impairment has been reported in studies with phenotype descriptions of SCA14, but previous studies have been small without control groups, and no homogeneous and systematic test panel has been used. The objective of this study was to thoroughly characterize the neuropsychological profile in ten Norwegian SCA14 subjects compared to unaffected family members and population norm data. Methods: Ten SCA14 subjects and ten intrafamilial unaffected age- and education-matched controls from two Norwegian families were included. The unaffected intrafamilial controls included six first degree relatives, two second degree relatives, and two spouses. General intellectual ability, memory, visuoperceptive skills, psychomotor speed, executive functions, depression and anxiety were examined using internationally standardized tests, with minimal need for manual response to avoid motor bias. Results: No significant cognitive deficit was found in SCA14 subjects compared to intrafamilial controls. Verbal IQ, verbal executive function and psychomotor speed tended to be reduced in affected subjects, but previously reported non-verbal executive dysfunction was not confirmed in this study. Conclusion: Only subtle cognitive impairment was found in SCA14 affected subjects. The current findings do not confirm earlier reports of cognitive dysfunction in SCA14, but does shows a mild impairment in specific verbal executive functions. Genotypic differences may partly account for this discrepancy, and further studies on larger materials are needed to verify the findings. |
| Databáze: | OpenAIRE |
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