Thursday, September 3, 2015

Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge and Chantal ME Tallaksen; Orphanet Journal of Rare Diseases 2015, 10:108 doi:10.1186/s13023-015-0328-4

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Twenty-nine Friedreich ataxia patients were identified in Norway, of which 23 were ethnic Norwegian, corresponding to a prevalence of 1:176 000 and 1:191 000, respectively. The highest prevalence was seen in the north. Carrier frequency of 1:196 (95 % CI = [1:752–1:112]) was found.


 Friedreich ataxia in Norway – an epidemiological, molecular and clinical study