Panelists discuss how the differential diagnosis for Friedreich's Ataxia involves distinguishing it from other ataxias, the process of definitive diagnosis through genetic testing, and the ...
Epidemiology, Pathophysiology, and Symptomatology of Friedreich Ataxia Video content above is prompted by the following: Describe the typical clinical presentation of FA in terms of age of onset ...
Genetic analysis beyond the causative variants, and independent of the core clinical symptoms (pyramidal signs versus ataxia), might offer a more pertinent way to approach phenotypic variability.
The ATM gene (mutated in the disease ataxia telangiectasia) activates the p53 tumor suppressor protein in response to DNA damage, explaining the higher incidence of cancer in AT patients.
A study investigated the origin of ataxia in the brain of patients with stroke. A significant number of the stroke lesions in the patients were located outside the cerebellum. A new study by the ...
Spinocerebellar ataxia is a group of dominantly inherited neurodegenerative disorders characterized by progressive loss of voluntary motor control and atrophy of the cerebellum, brainstem and ...