Clinical and genetic findings in 26 Italian patients with Lafora disease. (Articolo in rivista)

Type
Label
  • Clinical and genetic findings in 26 Italian patients with Lafora disease. (Articolo in rivista) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1528-1167.2006.00479.x (literal)
Alternative label
  • Franceschetti S; Gambardella A; Canafoglia L; Striano P; Lohi H; Gennaro E; Ianzano L; Veggiotti P; Sofia V; Biondi R; Striano S; Gellera C; Annesi G; Madia F; Civitelli D; Rocca FE; Quattrone A; Avanzini G; Minassian B; Zara F. (2006)
    Clinical and genetic findings in 26 Italian patients with Lafora disease.
    in Epilepsia (Cph.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Franceschetti S; Gambardella A; Canafoglia L; Striano P; Lohi H; Gennaro E; Ianzano L; Veggiotti P; Sofia V; Biondi R; Striano S; Gellera C; Annesi G; Madia F; Civitelli D; Rocca FE; Quattrone A; Avanzini G; Minassian B; Zara F. (literal)
Pagina inizio
  • 640 (literal)
Pagina fine
  • 643 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 47 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Franceschetti S: Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy Gambardella A: Institute of Neurological Sciences, National Research Council, Piano Lago Mangone, Cosenza- Institute of Neurology, University Magna Graecia, Catanzaro, Italy Canafoglia L: Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy Striano P: Laboratory of Neurogenetics, U.O. Neuromuscular and Neurodegenerative Disease, Istituto Gaslini, University of Genova, Genova, Italy Lohi H: Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Gennaro E: Laboratory of Human Genetics, E.O. Ospedali Galliera, Genova, Italy Ianzano L: Laboratory of Medical Genetics, Mauro Baschirotto Institute for Rare Disease, Vicenza, Italy - Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Veggiotti P: Child Neuropsychiatry Department, Neurological Institute Casimiro Mondino Foundation IRCCS, University of Pavia, Pavia, Italy Sofia V: Child Neuropsychiatry Department, Neurological Institute Casimiro Mondino Foundation IRCCS, University of Pavia, Pavia, Italy Biondi R: Institute of Neurology, University of Catania, Catania, Italy Striano S: Epilepsy Center, Federico II University, Naples, Italy Gellera C: Division of Biochemistry and Genetics, Istituto Nazionale Neurologico C. Besta, Milan, Italy Annesi G: Institute of Neurological Sciences, National Research Council, Piano Lago Mangone, Cosenza, Italy Madia F: Laboratory of Human Genetics, E.O. Ospedali Galliera, Genova, Italy Civitelli D: Institute of Neurological Sciences, National Research Council, Piano Lago Mangone, Cosenza, Italy Rocca FE: Institute of Neurological Sciences, National Research Council, Piano Lago Mangone, Cosenza, Italy Quattrone A: Institute of Neurological Sciences, National Research Council, Piano Lago Mangone, Cosenza, Italy Avanzini G: Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy Minassian B: Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Zara F: Institute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)
Titolo
  • Clinical and genetic findings in 26 Italian patients with Lafora disease. (literal)
Abstract
  • PURPOSE: EPM2B mutations have been found in a variable proportion of patients with Lafora disease (LD). Genotype-phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic findings of 26 Italian LD patients. METHODS: Disease progression was evaluated by means of a disability scale based on residual motor and cognitive functions and daily living and social abilities, at 4 years from the onset. Mutational analysis was performed by sequencing the coding regions of the EPM2A and EPM2B genes. RESULTS: Age at onset ranged from 8.5 to 18.5 years (mean, 13.7+/-2.6). The mean duration of follow-up was 7.1+/-3.9 years. Daily living activities and social interactions were preserved in five of 24 patients. The remaining patients showed moderate to extremely severe limitations of daily living and social abilities. Sixteen (72%) of 22 families showed mutations in the EPM2B gene, and five (22%), in the EPM2A gene. One family showed no mutations. A novel EPM2B mutation also was identified. CONCLUSIONS: In our series, EPM2B mutations occurred in 72% of families, thus indicating that EPM2B is the major gene for LD in the Italian population. Moreover, we found that six of 17 EPM2B patients preserved daily living activities and social interactions at 4 years from onset, suggesting a slow disease progression. Additional clinical and functional studies will clarify whether specific mutations may influence the course of the disease in LD patients. (literal)
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