Hoem Gry, Koht Jeanette
Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31.
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.
脆性X染色体相关震颤/共济失调综合征(FXTAS)是一种由X染色体突变引起的遗传性神经退行性疾病。主要症状为震颤、共济失调和帕金森症。50岁以上人群中,每2000人就有1人可能会患上该综合征。有理由相信,挪威接受该疾病检测的人数过少。