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Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Permanent lenke
https://hdl.handle.net/10037/24342
DOI
https://doi.org/10.1016/j.nmd.2021.11.007
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article.pdf (630.1Kb)
Publisert versjon (PDF)
Dato
2021-10-19
Type
Journal article
Tidsskriftartikkel
Peer reviewed

Forfatter
Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne
Sammendrag
We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They were referred to a neurologist for further evaluation. Both reported similar symptoms with chronic backache, pain and cramps in upper- and lower extremities, and fasciculations in their faces and extremities. Neurological examination demonstrated postural hand tremor in both and EMG revealed chronic neurogenic changes. Reevaluation of the patients at ages 74 and 83 showed slight progression of clinical manifestations. As opposed to male patients, these two females showed minimal disease progression and have maintained normal level of function into old age.
Forlag
Elsevier
Sitering
Müller, Nilssen, Nebuchenykh, Løseth, Jonsrud, Hoem, Van Ghelue, Arntzen. Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene. Neuromuscular Disorders. 2021:1-5
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  • Artikler, rapporter og annet (klinisk medisin) [1974]
Copyright 2021 The Author(s)

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