Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Giovanni Coppola; Chiara Criscuolo; Giuseppe De Michele; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzio Brescia Morra; Francesco Sacca; Valentina Scarano; Adamo P D'Adamo; Sandro Banfi; Paolo Gasparini; Filippo M Santorelli; Anna-Elina Lehesjoki; Alessandro Filla

doi:10.1007/s00415-005-0766-3

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Giovanni Coppola
, Chiara Criscuolo
, Giuseppe De Michele
, Fabrizio Barbieri
, Pasquale Striano
, Anna Perretti
, Lucio Santoro
, Vincenzio Brescia Morra
, Francesco Sacca
, Valentina Scarano
, Adamo P D'Adamo
, Sandro Banfi
, Paolo Gasparini
, Filippo M Santorelli
, Anna-Elina Lehesjoki
, Alessandro Filla

Department of Medical and Clinical Genetics

Research output: Contribution to journal › Article › Scientific › peer-review

Abstract

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.

Original language	English
Journal	Journal of Neurology
Volume	252
Issue number	8
Pages (from-to)	897-900
Number of pages	4
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-005-0766-3
Publication status	Published - 2005
MoE publication type	A1 Journal article-refereed

Fields of Science

311 Basic medicine
118 Biological sciences
515 Psychology

Access to Document

10.1007/s00415-005-0766-3

Cite this

Coppola, G., Criscuolo, C., De Michele, G., Barbieri, F., Striano, P., Perretti, A., Santoro, L., Brescia Morra, V., Sacca, F., Scarano, V., D'Adamo, A. P., Banfi, S., Gasparini, P., Santorelli, F. M., Lehesjoki, A.-E., & Filla, A. (2005). Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. Journal of Neurology, 252(8), 897-900. https://doi.org/10.1007/s00415-005-0766-3

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abstract = "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.",

keywords = "311 Basic medicine, 118 Biological sciences, 515 Psychology",

author = "Giovanni Coppola and Chiara Criscuolo and \{De Michele\}, Giuseppe and Fabrizio Barbieri and Pasquale Striano and Anna Perretti and Lucio Santoro and \{Brescia Morra\}, Vincenzio and Francesco Sacca and Valentina Scarano and D'Adamo, \{Adamo P\} and Sandro Banfi and Paolo Gasparini and Santorelli, \{Filippo M\} and Anna-Elina Lehesjoki and Alessandro Filla",

year = "2005",

doi = "10.1007/s00415-005-0766-3",

language = "English",

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Coppola, G, Criscuolo, C, De Michele, G, Barbieri, F, Striano, P, Perretti, A, Santoro, L, Brescia Morra, V, Sacca, F, Scarano, V, D'Adamo, AP, Banfi, S, Gasparini, P, Santorelli, FM, Lehesjoki, A-E & Filla, A 2005, 'Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation', Journal of Neurology, vol. 252, no. 8, pp. 897-900. https://doi.org/10.1007/s00415-005-0766-3

TY - JOUR

T1 - Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

AU - Coppola, Giovanni

AU - Criscuolo, Chiara

AU - De Michele, Giuseppe

AU - Barbieri, Fabrizio

AU - Striano, Pasquale

AU - Perretti, Anna

AU - Santoro, Lucio

AU - Brescia Morra, Vincenzio

AU - Sacca, Francesco

AU - Scarano, Valentina

AU - D'Adamo, Adamo P

AU - Banfi, Sandro

AU - Gasparini, Paolo

AU - Santorelli, Filippo M

AU - Lehesjoki, Anna-Elina

AU - Filla, Alessandro

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

KW - 311 Basic medicine

KW - 118 Biological sciences

KW - 515 Psychology

U2 - 10.1007/s00415-005-0766-3

DO - 10.1007/s00415-005-0766-3

M3 - Article

SN - 0340-5354

VL - 252

SP - 897

EP - 900

JO - Journal of Neurology

JF - Journal of Neurology

IS - 8

ER -