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The person suffered from severe hereditary ataxia.
Friedreich's ataxia is the most common of the hereditary ataxia syndromes.
We suggest that this system be made available for mass screening of patients with hereditary ataxia disorders.
PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy.
A new screening method was developed for the detection of CAG expanded alleles in patients with hereditary ataxia using polymerase chain reaction-based microtiter plate hybridization (PCR-MPH).
Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians.
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The study plan was approved by the Center for the Research and Rehabilitation of Hereditary Ataxias in Holguín and National Autonomous University of Mexico ethics committees before recruitment of participants started.
Knowledge regarding structure of the human cerebellum is essential for understanding the functional consequences of congenital and acquired neurological diseases of the cerebellum including sporadic and hereditary ataxias, the consequences of focal lesions such as stroke, and the cerebellar component of neuropsychiatric diseases including schizophrenia, Asperger's syndrome and autism [4] [8].
We aimed to make the analysis as specific to the hereditary ataxias as possible.
Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier.
Screening for CAG expansions in one such gene list, in patients with hereditary ataxias, led directly to the discovery of the causative gene for dentatorubral pallidoluysian atrophy [ 2, 16].
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