Is ataxia telangiectasia a leukodystrophy disease?Question:Is ataxia telangiectasia a leukodystrophy disease?Ataxia Telangiectasia:Ataxia-telangiectasia, A-T incorporates a medical condition that is often inherited from a parent to an offspring. This condition is often attributed to persistent neurologic chall...
What Is Acute Ataxia? What Is Spastic Dysarthria? What Are the Different Causes of Ataxia? What Is Dysdiadochokinesia? What Is Machado-Joseph Disease? What Are the Different Types of Dysarthria Treatment? Discussion Comments Share WiseGeek, in your inbox ...
Friedreich's ataxia (FRDA) is the most common of the early-onset inherited ataxias and accounts for approximately half of the cases of hereditary ataxia reported from Europe and the United States (1). FRDA is transmitted as an autosomal recessive trait, with a prevalence of about 2 per 100...
Uncoordinated motions, including walking, are known as ataxia, while telangiectasias are dilated blood vessels, capillaries usually located beneath the skin's surface. Additionally, telangiectasias are spider-like veins that look like small red veins...
Conclusions: It is concluded that dementia is not a disease and yet it occurs not only in Parkinson’s disease, Alzheimer’s disease (AD), Huntington’s disease and Pick’s disease, but also in any other neurodegenerative disease, e.g., spinocerebellar ataxia, or ...
HIRSCHSPRUNG'S diseaseA novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS....
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The disease course in this multisystemic neurodegenerative disease can be fatal, including premature death due to respiratory dysfunction. With a relative frequency of 5%, SYNE1 is one of the more common recessive ataxias worldwide. 展开
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Expansions of an intronic GAA repeat reduce the expression of frataxin and cause Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is a mitochondrial protein, and disruption of a frataxin homolog in yeast results in increased sensitivity to oxidant stress, increased...