Cognitive and social cognitive functioning in spinocerebellar ataxia
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The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a cognitive as well as motor role for the cerebellum. Recent suggestions of cerebellar involvement in social cognition have not been extensively explored in these conditions. The availability of definitive molecular diagnosis allows genetically defined subgroups of SCA patients, with distinct patterns of cerebellar and extracerebellar involvement, to be tested comparatively using a common battery of tests of general, social and emotional cognition.
Nine patients with SCA6, and 6 with SCA3 were assessed using a comprehensive battery of neuropsychological instruments, encompassing domains of memory, language, visuo-spatial skills, calculation, attention and executive function, emotional processing and theory of mind (ToM).
There were no deficits in visuo-spatial processing or calculation in either group, while individuals with naming and attentional difficulties were seen in both. Deficits in memory and executive function were present in both conditions, albeit more pronounced in SCA3. By contrast, both groups demonstrated consistently poor performance on ToM tests, and normal attribution of social and emotional responses.
The data support the hypothesis that the cerebellum is important for cognitive as well as motor activity. The pattern of overlap of domain impairments provides tentative preliminary evidence that there is a cerebellar contribution to aspects of memory and executive function and ToM, and that other domains depend more on neural system outside the cerebellum. The findings relating to ToM are relevant to the possibility of cerebellar involvement in autism.
Key wordscognitive functioning social cognitive functioning spinocerebellar ataxias neurodegenerative disorders genetic mutations
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- 3.Baron-Cohen S (1995) Mind-blindness: an essay on autism and theory of mind. MIT Press, Cambridge (MA)Google Scholar
- 5.Bauman ML, Kemper TL (1986) Developmental cerebellar abnormalities: a consistent finding in early infantile autism (abstract). Neurology 36(Suppl 1):359Google Scholar
- 6.Bauman ML, Kemper TL (1990) Limbic and cerebellar abnormalities are also present in an autistic child of normal intelligence (abstract). Neurology 40 (Suppl 1):307Google Scholar
- 9.Burgess PW, Shallice T (1997) The Hayling and Brixton Tests. Thames Valley Test Company, Bury St Edmunds UKGoogle Scholar
- 12.Cancel G, Abbas N, Stevanin G, Durr A, Chneiweiss H, Neri C, Duyckaerts C, Penet C, Cann HM, Agid Y, Brice A (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 57:809–816PubMedGoogle Scholar
- 25.Jackson M, Warrington E (1986) Arithmetic skills in patients with unilateral cerebral lesions. Cortex 22:610–620Google Scholar
- 35.McKenna P, Warrington E (1980) The Graded Naming Test. NFER-Nelson, Windsor UKGoogle Scholar
- 40.Nelson HE (1982) The National Adult Reading Test. NFER-Nelson, Windsor UKGoogle Scholar
- 43.Radvany J, Camargo CHP, Costa ZM, Fonseca NC, Nascimento ED (1993) Machado-Joseph Disease of Azorean ancestry in Brazil: The Catarina Kindred. Arquivos de Neuropsiquiatria 51:21–30Google Scholar
- 45.Robertson IH, Ward T, Ridgeway V, Nimmo-Smith I (1994) The Test of Everyday Attention. Thames Valley Test Company, Bury St Edmunds UKGoogle Scholar
- 51.Spreen O, Strauss E (1998) A compendium of neuropsychological tests (2nd edition). Oxford University Press, New YorkGoogle Scholar
- 52.Takiyama Y, Igarashi S, Rogaeva EA Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy JL, Lang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd KK, Tsuji S, St George-Hyslop PH (1995) Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Molec Genet 4:1137–1146PubMedCrossRefGoogle Scholar
- 53.Trenerry MR, Crossen B, DeBoe J, Leber WR (1989) Stroop Neuropsychological Screening Test (SNST). NFER-Nelson Publishing Co. Ltd, Windsor UKGoogle Scholar
- 55.Warrington E (1984) The Recognition Memory Test. NFER-Nelson, Windsor UKGoogle Scholar
- 56.Warrington E, James M (1991) The Visual Object and Space Perception Battery. Thames Valley Test Company, Bury St Edmonds UKGoogle Scholar
- 57.Wechsler D (1981) Wechsler Adult Intelligence Scale-Revised:Manual. Psychological Corporation, New YorkGoogle Scholar
- 58.Wechsler D (1997) Wechsler Memory Scale-Revised. Psychological Corporation, LondonGoogle Scholar
- 62.Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α–1A-voltage-dependent calcium channel. Nat Genet 15:62–69PubMedCrossRefGoogle Scholar