The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dys arthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 indivi...

Friedreic’s Ataxia is a disease characterized by modification of the FRDA gene on chromosome 9q13. Affection this protein induces altered expression frataxin. When altered, molecular changes and cell death arise due to iron accumulation in mitochondria elevation reactive oxygen species. The damage occurs mostly neurons, causing neuronal impairment; however, alterations also occur heart, cardiac...

friedreichs ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein frataxin. frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. mitochondrial dna (mtdna) could be considered a candidate modifier factor for frda disease, since mitochondrial oxidative stress is thought to be involved in the p...

friedreichs ataxia (frda) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. a deficiency in the protein frataxin causes this disease. frataxin deficiency leads to progressive iron accumulation in mitochondria, excessive free radical production and dysfunction of respiratory chain complexes. the expansion (gaa) repeat in the first in...

background: the most common neurologic manifestation of gluten sensitivity is ataxia, which accounts for up to 40% of idiopathic sporadic ataxia. timing of diagnosis of gluten ataxia is vital as it is one of the very few treatable causes of sporadic ataxia and causes irreversible loss of purkinje cells. antigliadin antibody (aga) of the igg type is the best marker for neurological manifestation...

neurodegenerative disorders such as huntingtons disease, alzheimers disease, parkinsons disease, amyotrophic lateral sclerosis, spinal muscular atrophy, friedreichs ataxia, and others are multi-factorial illnesses in which many pathways (still poorly understood) act serially and in parallel to give a determined pathologic phenotype. thus, presently there are no effective cures for these disease...

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 ...

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...