Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3–4
cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is …

A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and
antiendomysium antibodies. Twelve individuals (11.5%) with gluten sensitivity underwent duodenal …

Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients
carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. …

We have discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia
type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's …

The aim of the present study was (i) to compare disease progression and survival in
different types of degenerative ataxia, and (ii) to identify variables that may modify the rate of …

Article abstract Increased generation of reactive oxygen species may underlie the
pathophysiology of Friedreich ataxia (FRDA). The authors measured concentrations of 8-hydroxy-2’-…

Sixty-five patients suffering from autosomal dominant cerebellar ataxia-1(ADCA-1) were
subjected to a genotype phenotype correlation analysis using molecular genetic assignment to …

The nosology and aetiology of sporadic adult‐onset ataxia are poorly understood. The aim
of the present study was to answer the following questions: (i) How many sporadic ataxia …

Background FK866 is a potent inhibitor or NAD synthesis. This first-in-human study was
performed to determine the maximum-tolerated dose, toxicity profile, and pharmacokinetics on a …

Cognitive impairment was studied in distinct types of spinocerebellar ataxia (SCA): eleven
SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls. All were …