| Autor: |
Hoem G, Koht J |
| Jazyk: |
English; Norwegian |
| Zdroj: |
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2017 Oct 30; Vol. 137 (20). Date of Electronic Publication: 2017 Oct 30 (Print Publication: 2017). |
| DOI: |
10.4045/tidsskr.17.0317 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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