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

ABSTRACT:

Background

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.

Methods

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 pati

SUBMITTER: Wedding IM 

PROVIDER: S-EPMC4559212 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature