@article{c3a04e7777be4107aaaba7e862fc17d6,
title = "Does genetic anticipation occur in familial Alexander disease?",
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.",
keywords = "Alexander disease, Anticipation, GFAP, Mosaicism",
author = "Hunt, {Camille K.} and {Al Khleifat}, Ahmad and ella burchill and Joerg Ederle and Ammar Al-Chalabi and Jemeen Sreedharan",
note = "Funding Information: We are grateful for the participation and assistance of the proband and her family. We are grateful to the Rare & Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for performing GFAP mutation screening. This is an EU Joint Programme?Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organisations under the aegis of JPND?www.jpnd.eu (United Kingdom, Medical Research Council (MR/L501529/1; MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)). JS acknowledges funding support from the Rosetrees Trust (M799) and the van Geest Foundation.?AAC is an NIHR Senior Investigator. This study represents independent research part funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King?s College London. AAK is funded by The Motor Neurone Disease Association and NIHR Maudsley Biomedical Research Centre. Funding Information: This is an EU Joint Programme—Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organisations under the aegis of JPND— www.jpnd.eu (United Kingdom, Medical Research Council (MR/L501529/1; MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)). JS acknowledges funding support from the Rosetrees Trust (M799) and the van Geest Foundation. Funding Information: We are grateful for the participation and assistance of the proband and her family. We are grateful to the Rare & Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for performing GFAP mutation screening. This is an EU Joint Programme—Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organisations under the aegis of JPND— www.jpnd.eu (United Kingdom, Medical Research Council (MR/L501529/1; MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)). JS acknowledges funding support from the Rosetrees Trust (M799) and the van Geest Foundation. AAC is an NIHR Senior Investigator. This study represents independent research part funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King{\textquoteright}s College London. AAK is funded by The Motor Neurone Disease Association and NIHR Maudsley Biomedical Research Centre. Publisher Copyright: {\textcopyright} 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = jul,
doi = "10.1007/s10048-021-00642-9",
language = "English",
volume = "22",
pages = "215--219",
journal = "NEUROGENETICS",
issn = "1364-6745",
publisher = "Springer Verlag",
number = "3",
}