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

Orphanet Journal of Rare Diseases
Iselin Marie WeddingChantal M E Tallaksen

Abstract

Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, with a reported prevalence of 1:20 000 - 1:50 000 in Central Europe. Previous reports from south Norway have found a prevalence varying from 1:100 000 - 1:1 350 000; no studies are previously done in the rest of the country. In this cross-sectional study, Friedreich ataxia patients were identified through colleagues in neurological, pediatric and genetic departments, hospital archives searches, patients' associations, and National Centre for Rare Disorders. All included patients, carriers and controls were investigated clinically and molecularly with genotype characterization including size determination of GAA repeat expansions and frataxin measurements. 1376 healthy blood donors were tested for GAA repeat expansion for carrier frequency analysis. 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 s...Continue Reading

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Citations

Mar 9, 2019·Brain : a Journal of Neurology·Siri L RydningKaja K Selmer
Sep 30, 2019·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Javier Pérez-FloresAntonieta Nieto
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Sep 15, 2020·Cerebellum & Ataxias·Elan D Louis, Phyllis L Faust
Sep 25, 2017·The Cerebellum·Michael S Salman

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Methods Mentioned

BETA
PCR
electrophoresis
Protein Assay

Software Mentioned

Statistical Package for the Social Sciences ( SPSS )
Frambu
SPATAX
OUS
Graph Pad Prism Pad

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