RESUMO
The authors report on a case of incomplete atrio-ventricular block in a patient on pregabalin therapy. Pregabalin was not overdosed; renal function of the patient was normal. The effect reverted after pregabalin discontinuation.
Assuntos
Analgésicos/efeitos adversos , Bloqueio Atrioventricular/induzido quimicamente , Ácido gama-Aminobutírico/análogos & derivados , Idoso , Humanos , Testes de Função Renal , Masculino , Pregabalina , Ácido gama-Aminobutírico/efeitos adversosRESUMO
A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagnosis of Kallmann syndrome, that is, an association, possible in males and females, of hypogonadotropic hypogonadism with olfactory deficits. A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis.
RESUMO
The authors report a case of valproate-induced hyperammononemic encefalopathy whose initial clinical features were represented by increase of pre-existing disturbed-aggressive behaviour.
Assuntos
Anticonvulsivantes/efeitos adversos , Hiperamonemia/induzido quimicamente , Síndromes Neurotóxicas/etiologia , Ácido Valproico/efeitos adversos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Authors describe a case of neutropenia induced by ticlopidine. Attention must be taken for this case because the adverse effects of the drug usually occur within the first three months since the start of the therapy; instead, in our case the neutropenia occurred about 18 months.
Assuntos
Inibidores da Agregação Plaquetária/efeitos adversos , Ticlopidina/efeitos adversos , Idoso , Feminino , Humanos , Neutropenia/induzido quimicamente , Inibidores da Agregação Plaquetária/uso terapêutico , Ticlopidina/uso terapêutico , Fatores de TempoRESUMO
We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.
Assuntos
Corpo Caloso/patologia , Genes Recessivos , Heterogeneidade Genética , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/patologia , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Par 15 , Consanguinidade , Feminino , Ligação Genética , Humanos , Lactente , Escore Lod , Masculino , Linhagem , FenótipoRESUMO
Few trials issued the effect of disease-modifying medications on cognitive functions in multiple sclerosis. We designed an open-label longitudinal study to evaluate, during 2 years, cognitive performance and its relationship with MRI data and ApoE polymorphism findings in a group of relapsing-remitting (RR) multiple sclerosis (MS) Interferon (IFN) beta-1b-treated patients (median age 30 years, median disease duration 3.4 years). Complete neuropsychological battery was grouped into attention, information learning/memory, language and visuo-spatial functions. Fifty-two patients (33 females) were enrolled in the study. Six patients (11.5%) dropped out, mainly due to side effects. At baseline neuropsychological evaluation, we found 54% normal, 42% mildly impaired and 4% moderately impaired patients. At 2 years follow-up, cognitive status was stable in 65%, improved in 33% and worsened in 2% of patients. No significant relations were found between global cognitive outcome vs. EDSS change, clinical disease activity, MRI data or ApoE gene polymorphisms over the 2 years follow-up. EDSS and MRI fractional volumes were found to correlate with the performance at single tests. Twenty-one patients (45.6%) showed active MRI scans throughout the study, without any worsening at the corresponding neuropsychological examination. This ongoing trial suggests a possible beneficial effect of IFN beta-1b treatment on cognitive functions in RRMS patients. Extension of follow-up and further data analyses are needed to confirm and clarify these findings.
Assuntos
Apolipoproteínas E/genética , Interferon beta/uso terapêutico , Imageamento por Ressonância Magnética , Esclerose Múltipla , Testes Neuropsicológicos , Polimorfismo Genético , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Interferon beta-1b , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/genética , Esclerose Múltipla/patologia , Estatísticas não ParamétricasRESUMO
We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP phenotype (pure in 17 and complicated in two subjects) but no clear family history, as such patients may be cases of dominant inheritance with low penetrance. The overall frequency of SPG4 mutations in our study of HSP (in which prior linkage data were unavailable) was 32.4%, rising to 46.9% when only pure AD-HSP patients were considered. This figure falls well within the range reported in different populations. Rather as expected, the clinical data available for the patients did not support an easy genotype-phenotype correlation. Moreover, the clinical picture was not influenced by the length of the predicted residual gene product. As well as identifying novel variants in SPG4, this study constitutes the molecular characterization of the largest cohort of Italian AD-HSP patients studied to date. In addition, it provided an efficient, cost-effective, and reliable detection protocol for mutational screening of SPG4, which might facilitate medical genetic counseling.
Assuntos
Adenosina Trifosfatases/genética , Cromatografia Líquida de Alta Pressão/métodos , Análise Mutacional de DNA/métodos , Paraplegia Espástica Hereditária/diagnóstico , Adulto , Sequência de Aminoácidos , Estudos de Coortes , Mutação da Fase de Leitura , Genes Dominantes , Testes Genéticos/métodos , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Fenótipo , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Alinhamento de Sequência , Paraplegia Espástica Hereditária/genética , EspastinaRESUMO
Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.
Assuntos
Arginina/genética , GTP Fosfo-Hidrolases/genética , Mutação , Paraplegia/genética , Doenças do Sistema Nervoso Periférico/genética , Triptofano/genética , Adolescente , Criança , Análise Mutacional de DNA/métodos , Saúde da Família , Feminino , Proteínas de Ligação ao GTP , Humanos , Masculino , Proteínas de Membrana , Paraplegia/complicações , Doenças do Sistema Nervoso Periférico/complicaçõesRESUMO
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.
Assuntos
Ataxia/complicações , Deficiência Intelectual/complicações , Epilepsias Mioclônicas Progressivas/complicações , Adulto , Idade de Início , Ataxia/genética , Ataxia/patologia , Análise Mutacional de DNA , DNA Mitocondrial/genética , Saúde da Família , Feminino , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Imageamento por Ressonância Magnética/métodos , Epilepsias Mioclônicas Progressivas/genética , Epilepsias Mioclônicas Progressivas/patologia , Mutação PuntualAssuntos
Encéfalo/patologia , Arterite de Células Gigantes/complicações , Arterite de Células Gigantes/patologia , Meningite/etiologia , Meningite/patologia , Idoso , Síndrome de Churg-Strauss/patologia , Diagnóstico Diferencial , Feminino , Arterite de Células Gigantes/diagnóstico por imagem , Arterite de Células Gigantes/fisiopatologia , Granulomatose com Poliangiite/patologia , Cefaleia/etiologia , Humanos , Imageamento por Ressonância Magnética , Meningite/diagnóstico por imagem , Meningite/fisiopatologia , Radiografia , Sarcoidose/patologia , Artérias Temporais/patologiaRESUMO
A young man presenting with a Tourette syndrome-like disorder that was the main clinical manifestation of Hallervorden-Spatz syndrome is described. It is recommended that, even in the case of slow progression, HSS should be considered in the differential diagnosis of TS-like disorders.