Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study exclu...

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Bibliographic Details
Published in:Journal of neurology 2005-08, Vol.252 (8), p.897-900
Main Authors: COPPOLA, Giovanni, CRISCUOLO, Chiara, SCARANO, Valentina, D'ADAMO, Adamo P, BANFI, Sandro, GASPARINI, Paolo, SANTORELLI, Filippo M, LEHESJOKI, Anna E, FILLA, Alessandro, DE MICHELE, Giuseppe, STRIANO, Salvatore, BARBIERI, Fabrizio, STRIANO, Pasquale, PERRETTI, Anna, SANTORO, Lucio, MORRA, Vincenzo Brescia, SACCA, Francesco
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Ataxia - complications
Ataxia - genetics
Ataxia - pathology
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Family Health
Female
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Intellectual Disability - complications
Intellectual Disability - genetics
Intellectual Disability - pathology
Magnetic Resonance Imaging - methods
Medical sciences
Myoclonic Epilepsies, Progressive - complications
Myoclonic Epilepsies, Progressive - genetics
Myoclonic Epilepsies, Progressive - pathology
Nervous system (semeiology, syndromes)
Neurology
Point Mutation
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Summary:We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-005-0766-3