RT Journal Article
SR Electronic
T1 A MUTATION IN THE DNMT1 GENE CAUSING AUTOSOMAL DOMINANT ATAXIA WITH DEAFNESS AND CATAPLEXY
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP e2
OP e2
DO 10.1136/jnnp-2013-306573.138
VO 84
IS 11
A1 Gosal David
A1 Ealing John
A1 Mignot Emmanuel
YR 2013
UL http://jnnp.bmj.com/content/84/11/e2.44.abstract
AB We describe the clinical features of the first UK family with the recently described autosomal dominant cerebellar ataxia, deafness and narcolepsy associated with mutations in exon 21 of the DNMT1 gene. Only four other families have been described Worldwide. The proband presented at the age of 53 years with a ten year history of unsteadiness and episodes of emotionally induced cataplexy. A cerebellar syndrome with accompanying ptosis, myoclonus and mild long–tract signs were notable on examination. The patient's father was said to have had epilepsy and deafness. Examination of two other of the patients siblings revealed two other affected individuals (aged 58 and 60 years) with similar clinical features but with varying degrees of additional cognitive disturbance and optic atrophy. In addition, investigation of two of the offspring of one of the affected siblings revealed problems with cataplexy from their 20s. MR Imaging of the proband revealed mild generalised involutional changes, EEG interictal epileptiform discharges, multiple sleep latency testing, neurophysiology and a muscle biopsy were within normal limits. Imaging of the more clinically affected siblings revealed more substantial cortical changes. Sequencing of exon 21 of the DNMT1 gene revealed the previously described Ala570Val mutation.