Fragile X-associated tremor/ataxia syndrome
Tidsskr Nor Laegeforen. 2017 Oct 30;137(20).
doi: 10.4045/tidsskr.17.0317.
Print 2017 Oct 31.
[Article in
English,
Norwegian]
Abstract
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.
MeSH terms
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Ataxia / diagnosis*
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Ataxia / drug therapy
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Ataxia / epidemiology
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Ataxia / genetics*
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Diagnosis, Differential
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Fragile X Syndrome / diagnosis*
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Fragile X Syndrome / drug therapy
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Fragile X Syndrome / epidemiology
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Fragile X Syndrome / genetics*
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Humans
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Norway / epidemiology
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Parkinsonian Disorders / diagnosis
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Parkinsonian Disorders / drug therapy
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Parkinsonian Disorders / epidemiology
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Parkinsonian Disorders / genetics
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Tremor / diagnosis*
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Tremor / drug therapy
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Tremor / epidemiology
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Tremor / genetics*
Supplementary concepts
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Fragile X Tremor Ataxia Syndrome