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Huntington disease-like phenotype in a patient with ANO3 mutation

Koya Kutty, S; Mulroy, E; Magrinelli, F; Di Lazzaro, G; Latorre, A; Bhatia, KP; (2021) Huntington disease-like phenotype in a patient with ANO3 mutation. Parkinsonism & Related Disorders , 90 pp. 120-122. 10.1016/j.parkreldis.2021.02.022. Green open access

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Abstract

A 71-year-old previously well white British female developed progressive involuntary tongue movements over one year, resulting in eating difficulty and 10 kg weight loss. She had also noted involuntary perioral, facial and distal limb movements beginning 18 months earlier. These had progressively worsened. In the 3 years prior to presentation, she reported subjective memory decline, word finding difficulty and depressed mood, which improved with mirtazapine 30 mg once daily. She had no history of neuroleptic exposure. Her brother had died aged 40 years, following years of mental illness and substance abuse. She was estranged from her father, who was said to have had ‘behavioural problems’. Her paternal grandmother and maternal aunt had Parkinson's disease.

Type: Article
Title: Huntington disease-like phenotype in a patient with ANO3 mutation
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.parkreldis.2021.02.022
Publisher version: https://doi.org/10.1016/j.parkreldis.2021.02.022
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: ANO3, Anoctamin-3, Chorea, DYT 24
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical Neuroscience
URI: https://discovery.ucl.ac.uk/id/eprint/10124491
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