RT Journal Article
SR Electronic
T1 Familial paroxysmal ataxia: report of a family.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 212
OP 213
DO 10.1136/jnnp.55.3.212
VO 55
IS 3
A1 C H Hawkes
YR 1992
UL http://jnnp.bmj.com/content/55/3/212.abstract
AB Three cases from one kindred who suffer from dominant paroxysmal ataxia are described. This is a rare benign non-progressive disorder of childhood onset, characterised by bouts of ataxia with abrupt onset lasting minutes or hours. Cases may be identified on the basis of a suggestive history, nystagmus persisting between episodes, and dominant inheritance. Treatment with acetazolamide is often dramatically effective. This family is thought to be the first described in the UK but many more probably exist, mislabelled as epilepsy or migraine.