Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …

One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative
ataxic syndrome which bears his name, his description remains at the core of the classical …

Background Friedreich's ataxia, the most common inherited ataxia, is associated with a
mutation that consists of an unstable expansion of GAA repeats in the first intron of the …

Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the
first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian …

Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most
common inherited ataxia. The vast majority of patients are homozygous for an abnormal …

Friedreich ataxia (FRDA) is an autosomal-recessive disorder characterized by progressive
neurological and cardiac abnormalities. It predominantly affects individuals of European and …

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …

We studied genotype‐phenotype correlations in a group of 100 patients with typical
Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations …

Mitochondrial dysfunction and oxidative damage are at the origin of numerous
neurodegenerative diseases like Friedreich ataxia and Alzheimer and Parkinson diseases …

Friedreich's ataxia is an autosomal recessively inherited neurodegenerative disorder
caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on …