IngentaConnect Cerebellar ataxia in the eastern and southern parts of Norway

Authors: Koht, J.; Tallaksen, C. M. E.

Source: Acta Neurologica Scandinavica, Volume 115, Supplement 187, May 2007 , pp. 76-79(4)

Abstract:

Koht J, Tallaksen CME. Cerebellar ataxia in the eastern and southern parts of Norway.

Acta Neurol Scand 2007: 115 (Suppl. 187): 76-79.

The relative frequencies of different ataxias vary among different ethnic and geographic groups. The aim of this study was to examine patients with cerebellar ataxia and find the occurrence of autosomal dominant and recessive cerebellar ataxias in the population of the southern and eastern parts of Norway and estimate its prevalence. Materials and methods-

Probands were systematically tested for spinocerebellar ataxia 1, 2, 3, 6 and Friedreich's ataxia. A total of 94 patients with ataxia were assessed. Results-

We registered 60 patients from 39 unrelated families with hereditary ataxias. One family with SCA2 (two patients), one family with Friedreich's ataxia (two patients), two patients heterozygote for Friedreich's ataxia and one metabolic ataxia were identified. Conclusions-

We have few Friedreich's ataxia and SCA 1,2,3 and 6 in our population. Prevalence in Oslo County was estimated at 2.2/100,000 for autosomal recessive and 3.0/100,000 for autosomal dominant ataxia, respectively.

Keywords: ataxia; epidemiology; Friedreich's ataxia; genetics; spinocerebellar ataxia

Document Type: Research article

DOI: 10.1111/j.1600-0404.2007.00853.x

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