Fragile X-Associated Tremor/Ataxia Syndrome

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke（2017）

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摘要

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.

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