friedreich ataxia/треска

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Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.

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BACKGROUND Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian

GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.

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Friedreich's ataxia is an autosomal recessive progressive degenerative disorder caused by deficiency of the protein frataxin. The most common genetic cause is a homozygotic expansion of GAA triplets within intron 1 of the frataxin gene leading to impaired transcription. Preclinical in vivo and in

Familial outbreak of psittacosis as the first Chlamydia psittaci infection reported from Turkey.

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Psittacosis, also known as parrot disease, parrot fever and ornithosis, can be transmitted to humans by inhaling dried excreta of infected birds like canaries, parakeets, parrots, pigeons and turkeys. Unless it is specifically thought of and investigated, the diagnosis of psittacosis can easily be

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests.

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BACKGROUND Despite neurological patients show frequent physical impairment, timed neuropsychological tests do not take this into account during scoring procedures. OBJECTIVE We propose a normalization method based on the PATA Rate Task (PRT) and on the nine-hole pegboard test (9HPT) as a measure of

[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia].

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We report a 60-year-old man with a 6-year history of tremor in his hands. He noted the onset of short of breath and gait disturbance in 1994; both of these symptoms were slowly progressive. Then recently he developed fever two months prior to the present admission. He was admitted to the

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia.

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There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive

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