Does genetic anticipation occur in familial Alexander disease?

Camille K. Hunt, Ahmad Al Khleifat, ella burchill, Joerg Ederle, Ammar Al-Chalabi, Jemeen Sreedharan

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)
89 Downloads (Pure)

Abstract

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 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.

Original languageEnglish
Pages (from-to)215-219
Number of pages5
JournalNEUROGENETICS
Volume22
Issue number3
DOIs
Publication statusPublished - Jul 2021

Keywords

  • Alexander disease
  • Anticipation
  • GFAP
  • Mosaicism

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