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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.49 no.3 São Paulo Sept. 1991

http://dx.doi.org/10.1590/S0004-282X1991000300009 

CONTENTS CONTEÚDO

 

Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system

 

Ataxia cerebelar hereditária de início tardio: descrição de uma família com estudo de ligação com o sistema HLA.

 

 

Walter O. ArrudaI; M. Luiza Petzl-ErlerII; Moema A. CardosoI; Thomas LehnerIII; Jurg OttIII

IFrom the Department of Neurology, Unidade de Ciências Neurológicas - New York, USA
IIDepartment of Genetics, Universidade Federal do Paraná
IIICuritiba, Brazil, and Institute of Psychiatry, Columbia University

 

 


SUMMARY

A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1±5.4 years (27-47 years). The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem (and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP) were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded - 0==0,02, z=(-2,17) - and the overall analysis of the lod scores suggest another chromossomal location than chromosome 6.


RESUMO

Descreve-se uma família afetada por forma autossômica dominante de ataria cerebelar de início tardio (acima dos 20 anos). Oito membros da família são estudados e dados de outros quatro afetados pela doença foram obtidos por anamnese. A média de idade de início da doença foi 37,1±5,4 anos (27-47 anos). O quadro clínico consistia basicamente de síndrome cerebelar de caráter lentamente progressivo, sem ocorrência concomitante de sinais ou sintomas decorrentes de envolvimento de outros sistemas. Estudo tomográfico computadorizado mostrava atrofia cerebelar difusa com relativa preservação do tronco cerebral e das estruturas supratentoriais. Estudos neurofisiolôgicos (neurocondução motora/sensitiva, potenciais evocados visuais e auditivos) foram normais. Vinte e seis pessoas da família foram tipados para antígenos de histocompatibilidade HLA. Escores lod foram calculados utilizando programa de computador denominado LINKMAP. Ligação estreita com o sistema HLA nesta família foi excluída - 0==0,02, z=(-2,17) - e a análise global dos escores lod sugerem que o gene mutante nesta família não se localiza no cromossomo 6.


 

 

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

 

 

Acknowledgments - We thank Prof. Luiz A. Franco de Andrade, Escola Paulista de Medicina, and Prof. Luiz A. Bascheschi, Universidade de São Paulo, São Paulo, for their helpful suggestions. Dr. Ricardo R. Seixias performed the electrophysiological studies.

 

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Dr. Walter O. Arruda - Unidade de Ciências Neurológicas - Rua Gonçalves Dias 713 - 80240 Curitiba PR - Brasil.

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