• Anna Jansen
  • Amanpreet Badhwar
  • A. Al-Asmi
  • Adrian Danek
  • C. Dobson-Stone
  • Anthony Monaco
  • S. Chouinard
  • C. Shustik
  • Suha Mercho
  • François Dubeau
  • Frederick Andermann
  • E Andermann
  • Md Stephen L. Hauser (Editor)
Chorea-acanthocytosis is a neurodegenerative disorder characterized
by chorea, tics, orofaciolingual dyskinesia, areflexia,
seizures, dementia, and acanthocytosis. Mutations in the
CHAC gene encoding for chorein on chromosome 9q21
have been found in both autosomal-dominant and
autosomal-recessive CHAC families. We ascertained six individuals
in two French-Canadian (FC) families. EEG, video
telemetry, magnetic resonance, and volumetric studies were
performed. All patients presented with seizures. Age at onset
ranged from 22 to 38 years. EEG showed either no or infrequent
epileptiform discharges originating independently
from both temporal lobes. Epilepsy was initially well controlled,
but later all patients had periods of increased seizure
frequency. Seizures preceded other clinical manifestations of
CHAC by up to 11 years. Abnormal movements worsened
with carbamazepine and lamotrigine. Phenytoin and phenobarbital
were better tolerated. Acanthocytosis was present in
all patients. Both our families, as well as two other FC families,
share the same haplotype in the region of the CHAC
gene and are homozygous for an exon 70-73 deletion, suggesting
a founder effect. Epilepsy in CHAC patients represents
a challenge because the seizures may at times be intractable
and because anti-epileptic drugs may worsen the
involuntary movements.
Original languageEnglish
Pages (from-to)44-44
Number of pages1
JournalAnnals of Neurology
Volume56
Issue numbers8
Publication statusPublished - 2004
Event129th Annual Meeting of Neurology Outcomes Research - Toronto, Canada
Duration: 3 Oct 20046 Oct 2004

    Research areas

  • Epilepsy, Chorea-acanthocytosis (CHAC), Neurodegenerative disorder

ID: 2343571