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Fragile X-associated tremor/ataxia syndrome.

https://arctichealth.org/en/permalink/ahliterature289448
Source
Tidsskr Nor Laegeforen. 2017 10 31; 137(20):
Publication Type
Journal Article
Review
Date
10-31-2017
Author
Gry Hoem
Jeanette Koht
Source
Tidsskr Nor Laegeforen. 2017 10 31; 137(20):
Date
10-31-2017
Language
English
Norwegian
Publication Type
Journal Article
Review
Keywords
Ataxia - diagnosis - drug therapy - epidemiology - genetics
Diagnosis, Differential
Fragile X Syndrome - diagnosis - drug therapy - epidemiology - genetics
Humans
Norway - epidemiology
Parkinsonian Disorders - diagnosis - drug therapy - epidemiology - genetics
Tremor - diagnosis - drug therapy - epidemiology - genetics
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.
PubMed ID
29094559 View in PubMed
Less detail

Fragile X-associated tremor/ataxia syndrome.

https://arctichealth.org/en/permalink/ahliterature289606
Source
Tidsskr Nor Laegeforen. 2017 10 31; 137(20):
Publication Type
Journal Article
Review
Date
10-31-2017
Author
Gry Hoem
Jeanette Koht
Source
Tidsskr Nor Laegeforen. 2017 10 31; 137(20):
Date
10-31-2017
Language
English
Norwegian
Publication Type
Journal Article
Review
Keywords
Ataxia - diagnosis - drug therapy - epidemiology - genetics
Diagnosis, Differential
Fragile X Syndrome - diagnosis - drug therapy - epidemiology - genetics
Humans
Norway - epidemiology
Parkinsonian Disorders - diagnosis - drug therapy - epidemiology - genetics
Tremor - diagnosis - drug therapy - epidemiology - genetics
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.
PubMed ID
29094559 View in PubMed
Less detail