Article
McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene.
Psychiatric genetics - 1 Dec 2005
Zeman Adam, Daniels Geoff, Tilley Louise, Dunn Margaret, Toplis Laura, Bullock Tom, Poole Joyce, Blackwood Douglas
Abstract excerpt
A 50-year-old man presented with worsening, virtually lifelong, chorea and progressive behavioural disturbance, involving disinhibition and hoarding, over 10 years. Clinical assessment revealed chorea, dysarthria, areflexia, an inappropriately jovial, impulsive manner and neuropsychological evidence of frontosubcortical dysfunction. Investigation results included an elevated creatine kinase, caudate atrophy and...
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