McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene.
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 hypoperfusion, acanthocytes in the peripheral blood and the McLeod phenotype. DNA studies demonstrated a single-base deletion at position 172 in exon 1 of the XK gene, giving rise to a premature stop codon at position 129 in exon 2.
Zeman
Adam
A
Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh E4 2XU, UK. adam.zeman@ed.ac.uk
Daniels
Geoff
G
Tilley
Louise
L
Dunn
Margaret
M
Toplis
Laura
L
Bullock
Tom
T
Poole
Joyce
J
Blackwood
Douglas
D
D000050:Acanthocytes / Q000473:pathology; D002493:Central Nervous System Diseases / Q000235:genetics*; D041321:Chromosomes, Human, X; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics; D025064:Sex Chromosome Disorders; D013577:Syndrome