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 excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
Coppola
Giovanni
G
Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.
Criscuolo
Chiara
C
De Michele
Giuseppe
G
Striano
Salvatore
S
Barbieri
Fabrizio
F
Striano
Pasquale
P
Perretti
Anna
A
Santoro
Lucio
L
Brescia Morra
Vincenzo
V
Saccà
Francesco
F
Scarano
Valentina
V
D'Adamo
Adamo P
AP
Banfi
Sandro
S
Gasparini
Paolo
P
Santorelli
Filippo M
FM
Lehesjoki
Anna E
AE
Filla
Alessandro
A
D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation
D004272:DNA, Mitochondrial
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