RESUMEN
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.
Asunto(s)
Analgésicos/efectos adversos , Bloqueo Atrioventricular/inducido químicamente , Ácido gamma-Aminobutírico/análogos & derivados , Anciano , Humanos , Pruebas de Función Renal , Masculino , Pregabalina , Ácido gamma-Aminobutírico/efectos adversosRESUMEN
The authors report a case of valproate-induced hyperammononemic encefalopathy whose initial clinical features were represented by increase of pre-existing disturbed-aggressive behaviour.
Asunto(s)
Anticonvulsivantes/efectos adversos , Hiperamonemia/inducido químicamente , Síndromes de Neurotoxicidad/etiología , Ácido Valproico/efectos adversos , Humanos , Masculino , Persona de Mediana EdadRESUMEN
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.
Asunto(s)
Inhibidores de Agregación Plaquetaria/efectos adversos , Ticlopidina/efectos adversos , Anciano , Femenino , Humanos , Neutropenia/inducido químicamente , Inhibidores de Agregación Plaquetaria/uso terapéutico , Ticlopidina/uso terapéutico , Factores de TiempoRESUMEN
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.
Asunto(s)
Apolipoproteínas E/genética , Interferón beta/uso terapéutico , Imagen por Resonancia Magnética , Esclerosis Múltiple , Pruebas Neuropsicológicas , Polimorfismo Genético , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Humanos , Interferon beta-1b , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/genética , Esclerosis Múltiple/patología , Estadísticas no ParamétricasRESUMEN
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.
Asunto(s)
Adenosina Trifosfatasas/genética , Cromatografía Líquida de Alta Presión/métodos , Análisis Mutacional de ADN/métodos , Paraplejía Espástica Hereditaria/diagnóstico , Adulto , Secuencia de Aminoácidos , Estudios de Cohortes , Mutación del Sistema de Lectura , Genes Dominantes , Pruebas Genéticas/métodos , Humanos , Italia/epidemiología , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación Missense , Fenotipo , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Alineación de Secuencia , Paraplejía Espástica Hereditaria/genética , EspastinaRESUMEN
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.
Asunto(s)
Arginina/genética , GTP Fosfohidrolasas/genética , Mutación , Paraplejía/genética , Enfermedades del Sistema Nervioso Periférico/genética , Triptófano/genética , Adolescente , Niño , Análisis Mutacional de ADN/métodos , Salud de la Familia , Femenino , Proteínas de Unión al GTP , Humanos , Masculino , Proteínas de la Membrana , Paraplejía/complicaciones , Enfermedades del Sistema Nervioso Periférico/complicacionesRESUMEN
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.
Asunto(s)
Ataxia/complicaciones , Discapacidad Intelectual/complicaciones , Epilepsias Mioclónicas Progresivas/complicaciones , Adulto , Edad de Inicio , Ataxia/genética , Ataxia/patología , Análisis Mutacional de ADN , ADN Mitocondrial/genética , Salud de la Familia , Femenino , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética/métodos , Epilepsias Mioclónicas Progresivas/genética , Epilepsias Mioclónicas Progresivas/patología , Mutación PuntualRESUMEN
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.
Asunto(s)
Encéfalo/patología , Arteritis de Células Gigantes/complicaciones , Arteritis de Células Gigantes/patología , Meningitis/etiología , Meningitis/patología , Anciano , Síndrome de Churg-Strauss/patología , Diagnóstico Diferencial , Femenino , Arteritis de Células Gigantes/diagnóstico por imagen , Arteritis de Células Gigantes/fisiopatología , Granulomatosis con Poliangitis/patología , Cefalea/etiología , Humanos , Imagen por Resonancia Magnética , Meningitis/diagnóstico por imagen , Meningitis/fisiopatología , Radiografía , Sarcoidosis/patología , Arterias Temporales/patologíaRESUMEN
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.
Asunto(s)
Cuerpo Calloso/patología , Genes Recesivos , Heterogeneidad Genética , Paraplejía Espástica Hereditaria/genética , Paraplejía Espástica Hereditaria/patología , Adolescente , Niño , Preescolar , Cromosomas Humanos Par 15 , Consanguinidad , Femenino , Ligamiento Genético , Humanos , Lactante , Escala de Lod , Masculino , Linaje , FenotipoRESUMEN
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.