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

Acta Neurologica Scandinavica

Volumn 117, Issue 1, 2008, Pages 41-48

  Torrens, L ^a   Burns, E ^b   Stone, J ^b   Graham, C ^b   Wright, H ^a   Summers, D ^b   Sellar, R ^b   Porteous, M ^b   Warner, J ^b   Zeman, A ^c  

^a ROYAL EDINBURGH HOSPITAL   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Higher cortical functions; Neurodegenerative disorders; Neuropsychology; Spinocerebellar atrophy

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; DISEASE ASSOCIATION; DYSEXECUTIVE SYNDROME; FEMALE; HUMAN; MALE; MOTOR DYSFUNCTION; NEUROPSYCHIATRY; NEUROPSYCHOLOGY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; SPINOCEREBELLAR DEGENERATION; SYMPTOM; UNITED KINGDOM;

ADULT; AGED; CEREBELLUM; COGNITION; COGNITION DISORDERS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL DISORDERS; MIDDLE AGED; NERVE TISSUE PROTEINS; NEUROPSYCHOLOGICAL TESTS; SCOTLAND; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 37249019631     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2007.00904.x     Document Type: Article

References (30)

1. Schmahmann JD, Caplan D. Cognition, emotion and the cerebellum. Brain 2006 129 : 290 2.
2. Glickstein M. Thinking about the cerebellum. Brain 2006 129 : 288 90.
3. Koob MD, Moseley ML, Schut LJ et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA 8). Nat Genet 1999 21 : 379 84.
4. Moseley ML, Zu T, Ikeda Y et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 10. Nat Genet 2006 38 : 758 69.
5. Paulson HL. If it's not one thing, it's another. Nat Genet 2006 38 : 743 4.
6. Zeman A, Stone J, Porteous M, Burns E, Barron L, Warner J. Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. J Neurol Neurosurg Psychiatry 2004 75 : 459 65.
7. Stone J, Smith L, Watt K, Barron L, Zeman A. Incoordinated thought and emotion in spinocerebellar ataxia type 8. J Neurol 2001 248 : 229 32.
8. Lilja A, Hamalainen P, Kaiaranta E, Rinne R. Cognitive impairment in spinocerebellar ataxia type 8. J Neurol Sci 2005 237 : 31 8.
9. Schmahmann JD, Sherman JC. Cerebellar cognitive affective syndrome. Int Rev Neurobiol 1997 41 : 433 40.
10. Schols L, Bauer I, Zuhlke C et al. Do CTG expansions at the SCA 8 locus cause ataxia? Ann Neurol 2003 54 : 110 5.
11. Juvonen V, Hietala M, Kairisto V, Savontaus M-L. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing larger normal alleles in a genetically isolated population. Acta Neurol Scand 2005 111 : 154 62.
12. Wu YR, Lin HY, Chen CM et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA 8 and SCA 17 are associated with typical Parkinson's disease. Clin Genet 2004 65 : 209 14.
13. Baba Y, Uitti RJ, Farrer MJ, Wszolek ZK. Sporadic SCA8 mutation resembling corticobasal degeneration. Parkinsonism Relat Disord 2005 11 : 147 50.
14. Munhoz RP, Teive HA, Rakin S, Troiano AR. Atypical parkinsonism and SCA8. Parkinsonism Relat Disord 2006 12 : 191 2.
15. The Psychological Corporation. The Weschler Test of Adult Reading. San Antonio, TX : The Psychological Corporation, 2001.
16. Weschler D. WMS-III (UK) Administration and Scoring Manual. London : The Psychological Corporation, 1997.
17. Weschler D. WAIS-III (UK) Administration and Scoring Manual. London : The Psychological Corporation, 1997.
18. Benton AL, Hamsher KdeS. Multilingual Aphasia Examination. Iowa City, Iowa : AJA Associates, 1989.
19. Stroop JR. Studies of interference in serial verbal reactions. J Exp Psychol 1935 18 : 643 62.
20. Robertson IH, Ward T, Ridgeway V, Nimmo-Smith I. The Test of Everyday Attention Manual. Bury St Edmunds, Suffolk : Thames Valley Test Company, 1994.
21. Burgess PW, Shallice T. The Hayling and Brixton Tests Manual. Bury St Edmunds, Suffolk : Thames Valley Test Company, 1997.
22. First MB, Spitzer RL, Gibbon M, Williams J. Structured Clinical Interview for DSM-IV Research Edition. New York, NY : Biometrics Research Department, New York State Psychiatric Institute, 1996.
23. Zigmond AS, Snaith RP. The Hospital Anxiety and Depression Scale. Acta Psychiatr Scand 1983 67 : 361 70.
24. Ikeda Y, Dalton JC, Moseley ML et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004 75 : 3 16.
25. Juvonen V, Kairisto V, Hietala M, Savontaus M-L. Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia. J Med Genet 2002 39 : 935 6.
26. Brandt J, Leroi I, O'Hearn E, Rosenblatt A, Margolis RL. Cognitive impairments in cerebellar degeneration: a comparison with Huntington's disease. J Neuropsychiatry Clin Neurosci 2004 16 : 2.
27. Veiel HO. A preliminary profile of neuropsychological deficits associated with major depression. J Clin Exp Neuropsychol 1997 19 : 587 603.
28. Rapoport MJ, Mccullagh S, Shammi P, Feinstein A. Cognitive impairment associated with major depression following mild and moderate traumatic brain injury. J Neuropsychiatry Clin Neurosci 2005 17 : 61 5.
29. Vincent JB, Yuan QP, Schalling M et al. Long repeat tracts at SCA 8 in major psychosis. Am J Med Genet 2000 96 : 873 6.
30. Ito H, Kawakami H, Wate R et al. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology 2006 67 : 1479 81.