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.
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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.
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