RESUMO
The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. Therefore, genetic analysis of TBP gene triplets was performed on the patient's entire family, identifying three asymptomatic carriers of the same allele. A neuroradiological phenotype appeared to segregate with this allele, suggesting that it may play at least a contributory role in the determination of SCA17.
Assuntos
Ataxia/genética , Transtornos Cognitivos/genética , Convulsões/genética , Proteína de Ligação a TATA-Box/genética , Adulto , Alelos , Humanos , Masculino , Linhagem , Fenótipo , Expansão das Repetições de TrinucleotídeosAssuntos
Peptídeos beta-Amiloides/líquido cefalorraquidiano , Autoanticorpos/líquido cefalorraquidiano , Angiopatia Amiloide Cerebral/líquido cefalorraquidiano , Angiopatia Amiloide Cerebral/diagnóstico , Fragmentos de Peptídeos/líquido cefalorraquidiano , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/líquido cefalorraquidiano , Angiopatia Amiloide Cerebral/patologia , Humanos , Inflamação/líquido cefalorraquidiano , Inflamação/diagnóstico , Inflamação/patologia , Masculino , Pessoa de Meia-Idade , Fibras Nervosas Mielinizadas/patologiaAssuntos
Doenças Autoimunes do Sistema Nervoso/cirurgia , Doença de Graves/cirurgia , Tireoidectomia , Tireoidite Autoimune/cirurgia , Alergia e Imunologia , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/imunologia , Diagnóstico Diferencial , Eletroencefalografia , Doença de Graves/diagnóstico , Doença de Graves/imunologia , Humanos , Infusões Intravenosas , Iodeto Peroxidase/imunologia , Imageamento por Ressonância Magnética , Masculino , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Exame Neurológico , Receptores da Tireotropina/imunologia , Recidiva , Tireoidite Autoimune/diagnóstico , Tireoidite Autoimune/imunologiaRESUMO
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
Assuntos
Distrofia Muscular Oculofaríngea/diagnóstico , Distrofia Muscular Oculofaríngea/fisiopatologia , Idoso , Análise Mutacional de DNA/métodos , Feminino , Humanos , Itália , Músculo Esquelético/patologia , Distrofia Muscular Oculofaríngea/genética , Proteína II de Ligação a Poli(A)/genéticaAssuntos
Ácido Dicloroacético/uso terapêutico , Síndrome MELAS/tratamento farmacológico , Adolescente , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/tratamento farmacológico , Isquemia Encefálica/genética , Análise Mutacional de DNA , Ácido Dicloroacético/efeitos adversos , Progressão da Doença , Dominância Cerebral/fisiologia , Relação Dose-Resposta a Droga , Seguimentos , Humanos , Ácido Láctico/sangue , Assistência de Longa Duração , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Masculino , Neurite (Inflamação)/induzido quimicamente , Neurite (Inflamação)/diagnóstico , Lobo Occipital/irrigação sanguínea , Lobo Temporal/irrigação sanguínea , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
The typical adult-onset form of Huntington's disease (HD) is a clinical condition in which the latest advances of genetic research can be usefully applied during the course of the diagnostic process; not so clear are the guidelines for the much less frequent late-onset variant. We have recently seen three patients in their late sixties who had been misdiagnosed for up to 10 years due to the apparently isolated, mild, and slowly progressive nature of their hyperkinetic movements or cognitive disorders. Only after the results of DNA sequencing on a blood sample became available could the appropriate diagnosis of late-onset HD be reached. By contrast, neuroimaging studies lacked sufficient sensitivity and specificity. Appropriate neurogeriatric assessment in these cases should follow specific guidelines and should always include selected high-technology procedures.
Assuntos
Demência/diagnóstico , Doença de Huntington/diagnóstico , Idoso , Encéfalo/patologia , Demência/genética , Diagnóstico Diferencial , Diagnóstico por Imagem , Feminino , Humanos , Doença de Huntington/genética , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Testes NeuropsicológicosRESUMO
One hundred forty-one adult patients treated for no less than 6 months with standard daily doses of the commonest antiepileptic drugs (AEDs) were recruited in five Italian centers and submitted to intensive clinical and electrophysiologic investigation to assess the effects of AEDs on peripheral nerves. Eighty percent of the patients were receiving monotherapy. Carbamazepine (CBZ) was the most common AED (51 cases), followed by phenytoin (PHT) (46), phenobarbital (PB) (42), and valproate (VPA) (25). Fifty-three percent of the patients had one or more symptoms of polyneuropathy (paresthesias being the most common complaint). The neurologic examination was abnormal in 32%. Electrophysiologic findings in two or more separate nerves were abnormal in 77 patients (54.6%); of these, 27 (19.1%) had abnormal neurologic findings and 21 (14.9%) also had symptoms of polyneuropathy. Sensory functions were most frequently impaired. Sural nerve biopsy was performed in 4 patients receiving monotherapy with CBZ, PHT, PB, and VPA. Except in patients receiving VPA (in whom no morphologic abnormalities were detected), mild predominantly axonal damage with secondary myelin changes was noted. A correlation was noted between polyneuropathy, age of the patient and, to a lesser extent, receipt of two or more AEDs.