Cerebellar ataxia in the eastern and southern parts of Norway.
BACKGROUND
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.


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.
Koht
J
J
Department of Neurology, Ullevaal University Hospital, Oslo, Norway. jeanette.koht@medisin.uio.no
Tallaksen
C M E
CM
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005621:Friedreich Ataxia / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D020233:Gait Disorders, Neurologic / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009664:Norway / Q000453:epidemiology / Q000208:ethnology; D015995:Prevalence; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology