Abstract
AbstractAlexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother presented with symptoms many years after her daughter. We reviewed the age of onset in all published cases of familial AxD and found that 32 of 34 instances of parent–offspring pairs demonstrated an earlier age of onset in offspring compared to the parent. We suggest that genetic anticipation occurs in familial AxD and speculate that genetic mosaicism could explain this phenomenon.
Funder
Rosetrees Trust
Medical Research Council
Economic and Social Research Council
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Cited by
4 articles.
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