Consumption of alcohol excessively causes dependence and leads to psychological discomfort. Motivation drink is influenced by a variety neurobiological environmental variables. The proclivity an individual imbibe thought reflect balance between alcohol’s positive reinforcing (i.e., rewarding) effects, such as euphoria anxiety reduction anxiolysis), the drug...

BACKGROUND AND AIMS Increased generation of reactive oxygen species and mitochondrial dysfunction may underlie the pathophysiology of Friedreich's ataxia, the most common inherited ataxia, due to GAA expansion in a gene coding for a mitochondrial protein (frataxin), implicated in the regulation of iron metabolism. Because iron overload would cause oxidative stress in Friedreich's ataxia, we inv...

friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...

A preliminary genealogical investigation of all the known ancestors from the year 1608 of 4 apparently unrelated French Canadian kindreds with Friedreich's ataxia reveals that the original ataxia gene in the province of Quebec was present within a core of no more than 10 families living in Quebec City in the mid-1600's.

Optic ataxia (OA) is one of the symptoms pertaining to Bálint's Syndrome. It has been described clinically for nearly 80 years before it became a cornerstone of the most popular dual stream theory of the visual brain. Over the last 10 years a regain of interest for this neurological condition lead to a number of precise analyses of the deficits found in optic ataxia, giving rise to a renewed ou...

the patient was a 22-year-old female with ataxia-telangiectasia presented with progressive dysphagia to solid food from 2 months ego. she had lost 17 kg in that period. physical findings were cachexia, telangiectasias of sclera, ataxia in limbs movements and epigastric tenderness.there was a tumoral lesion in gastric lesser curvature with extension to esophagogastric junction in endoscopy. path...

cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. this is a cross sectional study designed to estimate the relative pr...

The mitochondrial matrix protein frataxin is depleted in patients with Friedreich's ataxia, the most common autosomal recessive ataxia. While frataxin is important for intracellular iron homeostasis, its exact cellular role is unknown. Deletion of the yeast frataxin homolog YFH1 yields mutants ((Delta)yfh1) that, depending on the genetic background, display various degrees of phenotypic defects...