Wilson's disease presenting in a family with an apparent dominant history of tremor.
A patient with Wilson's disease is described who presented with dystonic tremor in a family with an apparent dominant history of tremor. Subsequent investigation showed that the patient's mother had essential tremor, with molecular analysis of the ATP7B gene excluding the possibility of pseudodominant inheritance. This case highlights the importance of considering the possibility of Wilson's disease in every young patient with a movement disorder, even where the clinical picture does not suggest a recessively inherited disorder.
Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. d.j.nicholl@bham.ac.uk
D J
DJ
Nicholl
P
P
Ferenci
C
C
Polli
M B
MB
Burdon
H S
HS
Pall
D000293:Adolescent; D020821:Dystonic Disorders / Q000150:complications / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D014202:Tremor / Q000150:complications / Q000235:genetics*