Engelsk titel: Fragile X-associated tremor/ataxia syndrome
Läs online
Författare:
Hoem, Gry
;
Koht, Jeanette
Email: gry.hoem@uit.no
Språk: Nor
Antal referenser: 18
Dokumenttyp:
Översikt
UI-nummer: 18010016
Sammanfattning
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.