Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

Abdullah Al-Asmi, An C. Jansen, AmanPreet Badhwar, François Dubeau, Donatella Tampieri, Chaim Shustik, Suha Mercho, Ghislaine Savard, Carol Dobson-Stone, Anthony P. Monaco, Frederick Andermann, Eva Andermann

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Purpose: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc families in which patients presented with temporal lobe epilepsy. Methods: Detailed medical and family histories were obtained. EEG, video-telemetry, brain magnetic resonance imaging (MRI) with volumetric studies of amygdala and hippocampus, as well as neuropsychological testing were performed. Blood smears were examined for acanthocytosis. Mutation analysis of VPSl3A was carried out in five patients. Results: Six patients in three sibships were initially seen with seizures. Age at seizure onset ranged from 22 to 38 years. Seizures preceded other clinical manifestations of ChAc by

Original languageEnglish
Pages (from-to)1256-1263
Number of pages8
JournalEpilepsia
Volume46
Issue number8
DOIs
Publication statusPublished - Aug 2005

Fingerprint

Neuroacanthocytosis
Seizures
Abetalipoproteinemia
Medical History Taking
Telemetry
Mutation
Temporal Lobe Epilepsy
Amygdala
Age of Onset
Electroencephalography
Hippocampus
Chromosomes
Magnetic Resonance Imaging
Familial Temporal epilepsy
Brain

Keywords

  • Chorea-acanthocytosis
  • Familial temporal lobe epilepsy
  • Movement disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Al-Asmi, A., Jansen, A. C., Badhwar, A., Dubeau, F., Tampieri, D., Shustik, C., ... Andermann, E. (2005). Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia, 46(8), 1256-1263. https://doi.org/10.1111/j.1528-1167.2005.65804.x

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. / Al-Asmi, Abdullah; Jansen, An C.; Badhwar, AmanPreet; Dubeau, François; Tampieri, Donatella; Shustik, Chaim; Mercho, Suha; Savard, Ghislaine; Dobson-Stone, Carol; Monaco, Anthony P.; Andermann, Frederick; Andermann, Eva.

In: Epilepsia, Vol. 46, No. 8, 08.2005, p. 1256-1263.

Research output: Contribution to journalArticle

Al-Asmi, A, Jansen, AC, Badhwar, A, Dubeau, F, Tampieri, D, Shustik, C, Mercho, S, Savard, G, Dobson-Stone, C, Monaco, AP, Andermann, F & Andermann, E 2005, 'Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis', Epilepsia, vol. 46, no. 8, pp. 1256-1263. https://doi.org/10.1111/j.1528-1167.2005.65804.x
Al-Asmi, Abdullah ; Jansen, An C. ; Badhwar, AmanPreet ; Dubeau, François ; Tampieri, Donatella ; Shustik, Chaim ; Mercho, Suha ; Savard, Ghislaine ; Dobson-Stone, Carol ; Monaco, Anthony P. ; Andermann, Frederick ; Andermann, Eva. / Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. In: Epilepsia. 2005 ; Vol. 46, No. 8. pp. 1256-1263.
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