Abstract Details

Title Juvenile Myoclonic Epilepsy Phenotype in a Large Tunisian Family with Genetically Proven Unverricht-Lundborg Disease

Topic Epilepsy

Presentation(s) P05 - (-)

Poster/Presentation
Number 091

Objective

Background BACKGROUND: ULD is an autosomal recessive disease, frequent in Mediterranean region. It is characterized by an intra and inter familial variability. Functional disability is mainly due to action myoclonus. At onset, ULD can be misdiagnosed with JME.

Design/Methods DESIGN/METHODS: The family was identified through a proband with generalized tonic clonic seizures (GTCS) and myoclonus. Twenty at-risk members were examined. Simplified unified myoclonus rating scale (UMRS) evaluated the severity of the myoclonus. EEG was performed in 3 patients. Dodecamer expansion in cystatin B gene was searched by deamination/PCR assay. The transcription level of CSTB, cathepsin B and cystatin C was measured and compared to a family with classical ULD and four affected members.

Results RESULTS: The family included six affected members. The mean duration of evolution was 22.4 years. All had minor morning myoclonic (UMRS score: 1/5) and GTCS with no action myoclonus and no cognitive impairment. Peri oral reflex myoclonus were present in all, they were correlated to EEG abnormalities in two. Seizures and myoclonus were easily controlled by low doses of valproate and clonazepam, and never treated in one patient. All these characteristics led in the beginning to the misdiagnosis of JME. Nevertheless a homozygous dodecamer expansion in the CSTB gene was identified in all patients. No correlation was observed between CSTB, cathepsin B and cystatin C transcription levels and the severity of the disease within the family and compared to the family with classical phenotype.

Conclusions CONCLUSIONS: The phenotype in ULD can be closer to JME than to progressive myoclonic epilepsy (PME) after long disease evolution. We suggest that ULD mutation has therefore to be searched in case of atypic features for JME in Mediterranean patients or in endogamous context.

Authors/Disclosures
Yosr Hizem PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
Imen Kacem, MD (Department of Neurology)	Dr. Kacem has nothing to disclose.
James L. Bernat, MD, FAAN	Dr. Bernat has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Physician's Index for Ethics in Medicine. The institution of Dr. Bernat has received research support from National Institutes of Health UL1TR001086. The institution of Dr. Bernat has received research support from National Institutes of Health ME-1609-36174. Dr. Bernat has received publishing royalties from a publication relating to health care.
James L. Bernat, MD, FAAN	Dr. Bernat has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Physician's Index for Ethics in Medicine. The institution of Dr. Bernat has received research support from National Institutes of Health UL1TR001086. The institution of Dr. Bernat has received research support from National Institutes of Health ME-1609-36174. Dr. Bernat has received publishing royalties from a publication relating to health care.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Eric Leguern, Sr., MD, PhD (ICM / APHP / UPMC)	No disclosure on file
	No disclosure on file
Klemens Ruprecht, MD (Klinik fur Neurologie)	Dr. Ruprecht has received research support from European Union (821283-2). Dr. Ruprecht has received research support from Merck Serono. Dr. Ruprecht has received research support from Stiftung Charite. Dr. Ruprecht has received research support from Arthur Arnstein Foundation. Dr. Ruprecht has received publishing royalties from a publication relating to health care.

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