Santa Maria Nuova, Italy
Santa Maria Nuova, Italy

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Costa C.,University of Perugia | Prontera P.,Sezione di Genetica Medica | Prontera P.,University of Perugia | Sarchielli P.,University of Perugia | And 7 more authors.
Cephalalgia | Year: 2014

Background: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case: Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions: The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders. © International Headache Society 2013.


Zucca C.,R.Ø.S.A. | Zanotta N.,R.Ø.S.A. | Epifanio R.,R.Ø.S.A. | Redaelli F.,Laboratorio Of Biologia Molecolare | Bassi M.T.,Laboratorio Of Biologia Molecolare
Bollettino - Lega Italiana contro l'Epilessia | Year: 2010

We report a family with a novel SCN1A mutation segregating in the proband and inherited from the paternal line. The proband had West syndrome (WS) in infancy, and later developed Lennox Gastaut syndrome (LGS). In the paternal line, there is only one affected member who had febrile seizures Epileptic phenotype was also present in the maternal line. We thus hypothesize a complex system of genetic expression with possible involvement of other genes. SCN1A mutations have been occasionally associated with LGS, but this is the first report of an association with WS.


Magnani A.,Laboratorio Of Biologia Molecolare | Pattacini L.,Laboratorio Of Biologia Molecolare | Boiardi L.,Unita Operativa di Reumatologia | Casali B.,Laboratorio Of Biologia Molecolare | Salvarani C.,Unita Operativa di Reumatologia
Clinical and Experimental Rheumatology | Year: 2010

Objectives: To evaluate the presence and the glycosylation pattern of reelin in synovial fluid and serum of patients affected by different rheumatic pathologies. Methods: Reelin levels were evaluated in patients affected by rheumatoid arthritis (RA), psoriatic arthritis (PsA), spondyloarthritis (SpA) and osteoarthritis (OA). Reelin semi-quantitative assays were performed by western blot. The glycosylation pattern was evaluated by immunoblotting performed by sepharose conjugated lectins. RT-PCR was used to detect the presence of mRNA encoding for reelin and its receptors. Results: Reelin is detectable in both sinovial fluids and sera and its levels are more elevated in patients affected by RA with respect to those affected by other inflammatory and non inflammatory joint diseases. The glycosylation pattern of the protein differs in synovial fluid and serum. Fibroblast-like synoviocytes (FLS) express the mRNAs encoding for reelin and its receptors. Conclusions: Since its levels are higher in RA then in the other analysed pathologies, reelin can represent a candidate suitable for the differential diagnosis of this pathology. Moreover, the observation that this protein is encoded by FLS and differentially glycosylated in blood and synovial fluid supports the hypothesis that it is locally produced in the joints, where it could play an important role in RA development and maintenance. © clinical and experimental rheumatology 2010.


Zanotta N.,U.O. di Neurofisiopatologia | Romaniello R.,U.O. Neuropsichiatria e Neuroriabilitazione 1 | Arcieri S.,U.O. di Neurofisiopatologia | Tenderini E.,Laboratorio Of Biologia Molecolare | And 3 more authors.
Bollettino - Lega Italiana contro l'Epilessia | Year: 2011

We report a child affected by unclassified epilepsy with febrile and afebrile seizures, mental retardation and progressive cerebellar atrophy, who also carried two heterozygous mutations of sodium channel alpha-subunit (SCN1A) gene. The same SCN1A mutations were found in his mother who only presented a febrile convulsion at the age of 9 months. Our data suggest evidence that SCN1A mutations might be responsible, other than epilepsy, also for progressive cerebellar atrophy as reported in models of different channelopathies.


PubMed | Laboratorio Of Biologia Molecolare
Type: Comparative Study | Journal: Clinical and experimental rheumatology | Year: 2010

To evaluate the presence and the glycosylation pattern of reelin in synovial fluid and serum of patients affected by different rheumatic pathologies.Reelin levels were evaluated in patients affected by rheumatoid arthritis (RA), psoriatic arthritis (PsA), spondyloarthritis (SpA) and osteoarthritis (OA). Reelin semi-quantitative assays were performed by western blot. The glycosylation pattern was evaluated by immunoblotting performed by sepharose conjugated lectins. RT-PCR was used to detect the presence of mRNA encoding for reelin and its receptors.Reelin is detectable in both sinovial fluids and sera and its levels are more elevated in patients affected by RA with respect to those affected by other inflammatory and non inflammatory joint diseases. The glycosylation pattern of the protein differs in synovial fluid and serum. Fibroblast-like synoviocytes (FLS) express the mRNAs encoding for reelin and its receptors.Since its levels are higher in RA then in the other analysed pathologies, reelin can represent a candidate suitable for the differential diagnosis of this pathology. Moreover, the observation that this protein is encoded by FLS and differentially glycosylated in blood and synovial fluid supports the hypothesis that it is locally produced in the joints, where it could play an important role in RA development and maintenance.

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