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Article

Does genetic anticipation occur in familial Alexander disease?

Neurogenetics - 1 Jul 2021

Hunt Camille K, Al Khleifat Ahmad, Burchill Ella, Ederle Joerg, Al-Chalabi Ammar, Sreedharan Jemeen

Abstract excerpt

Alexander 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...

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Identifiers

PMID: 34046764
DOI: 10.1007/s10048-021-00642-9
PMCID: PMC8241638

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