Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings: frequency, neurological, neuropsychological and neuropsychiatric findings

L. Torrens, E. Burns, J. Stone, Cat Graham, H. Wright, D. Summers, R. Sellar, M. Porteous, J. Warner, A. Zeman

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (SCA 8) expansion is associated with ataxia in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and (iii) review neuroradiological findings in SCA 8. Methods The methods included: (i) measurement of SCA 8 expansion frequencies in ataxic patients and healthy controls; (ii) comprehensive neuropsychological assessment of patients with SCA 8 and matched controls, neuropsychiatric interview; and (iii) comparison of patient and matched control magnetic resonance imaging (MRI) scans. Results (i) 10/694 (1.4%) unrelated individuals with ataxia had combined CTA/CTG repeat expansions > 100 compared to 1/1190 (0.08%) healthy controls (P < 0.0005); (ii) neuropsychological assessment revealed a dysexecutive syndrome among SCA 8 patients, not readily explained by motor or mood disturbance; neuropsychiatric symptoms occurred commonly; (iii) cerebellar atrophy was the only salient MRI abnormality in the patient group. Conclusions The SCA 8 expansion is associated with ataxia in Scotland. The disorder is associated with a dysexecutive syndrome.

Original languageEnglish
Pages (from-to)41-48
Number of pages8
JournalActa Neurologica Scandinavica
Volume117
Issue number1
DOIs
Publication statusPublished - Jan 2008

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