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2.
Mol Genet Metab ; 107(3): 496-500, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23062577

RESUMO

Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liver, cardiac muscle, and skeletal muscle. Although skeletal muscle weakness occurs commonly in GSD IIIa, bulbar muscle involvement has not been previously reported. Here we present three GSD IIIa patients with clinical evidence of bulbar weakness based on instrumental assessment of lingual strength. Dysarthria and/or dysphagia, generally mild in severity, were evident in all three individuals. One patient also underwent correlative magnetic resonance imaging (MRI) which was remarkable for fatty infiltration at the base of the intrinsic tongue musculature, as well as abnormal expansion of the fibro-fatty lingual septum. Additionally, we provide supportive evidence of diffuse glycogen infiltration of the tongue at necropsy in a naturally occurring canine model of GSD IIIa. While further investigation in a larger group of patients with GSD III is needed to determine the incidence of bulbar muscle involvement in this condition and whether it occurs in GSD IIIb, clinical surveillance of lingual strength is recommended.


Assuntos
Tecido Adiposo/patologia , Doença de Depósito de Glicogênio Tipo III/patologia , Glicogênio/metabolismo , Debilidade Muscular/patologia , Língua/patologia , Tecido Adiposo/metabolismo , Adulto , Animais , Criança , Transtornos de Deglutição/metabolismo , Transtornos de Deglutição/patologia , Cães , Disartria/metabolismo , Disartria/patologia , Feminino , Sistema da Enzima Desramificadora do Glicogênio/deficiência , Sistema da Enzima Desramificadora do Glicogênio/genética , Doença de Depósito de Glicogênio Tipo III/metabolismo , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Mutação , Língua/metabolismo
3.
Semin Neurol ; 32(5): 538-43, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23677665

RESUMO

As Wilson's disease is both preventable and treatable, the diagnosis must not be missed. Despite this, it is usually misdiagnosed. Misdiagnosis and delay in treatment are clinically relevant because if left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability, and death. Those adequately treated have a normal life span. Wilson's disease is an autosomal recessive disease caused by mutations in the ATP7B gene. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. The clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, parkinsonism, ataxia, and choreoathetosis. Once the possibility of Wilson's disease is considered, diagnosis is straight forward. Currently available treatments, including zinc acetate and trientine, are generally well tolerated and effective.


Assuntos
Degeneração Hepatolenticular/tratamento farmacológico , Trientina/uso terapêutico , Acetato de Zinco/uso terapêutico , Ataxia/complicações , Ataxia/diagnóstico , Disartria/complicações , Disartria/genética , Disartria/metabolismo , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Humanos , Fígado/metabolismo , Masculino , Mutação/genética , Resultado do Tratamento , Adulto Jovem
5.
Neurology ; 64(4): 608-13, 2005 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-15728280

RESUMO

BACKGROUND: About 20% of patients with familial hemiplegic migraine (FHM) develop progressive cerebellar signs. Genetic studies have established an association with mutations in the CACNA1A gene. However, the mechanisms underlying cerebellar involvement are largely unknown. OBJECTIVE: To use proton MR spectroscopy (1H-MRS) to investigate metabolic alterations in the cerebellum as well as cortical regions known to be involved in the propagation of migraine aura. METHODS: Fifteen CACNA1A mutation carriers from three FHM families and 17 healthy control subjects were studied. Eleven patients had clinical signs of cerebellar involvement. LCModel fits were used to estimate absolute concentrations of N-acetyl aspartate (NAA), myo-inositol (mI), glutamate (Glu), choline-containing compounds, total creatine, and lactate in the superior cerebellar vermis (SCV), parietal cortex, and occipital cortex. To control for atrophy effects, automated image segmentation was performed using SPM99. The brain parenchyma fraction (BPF) was determined for all three regions. RESULTS: Compared with controls, the brain parenchyma fraction (BPF), NAA, and Glu were significantly reduced and mI was significantly elevated in the SCV of patients with FHM. In contrast, no metabolite alterations were found in supratentorial regions. BPF and NAA in the SCV significantly correlated with cerebellar scores, in particular, gait ataxia. CONCLUSIONS: The findings suggest that there is a regionally distinct neuronal impairment in the superior cerebellar vermis that exceeds macroscopic tissue loss. Correlations with clinical scores emphasize the functional relevance of localized atrophy (brain parenchyma fraction) and N-acetyl aspartate levels. These measures may be useful to monitor disease progression. The observed reduction in glutamate may in part reflect impaired glutamatergic neurotransmission.


Assuntos
Cerebelo/química , Hemiplegia/metabolismo , Espectroscopia de Ressonância Magnética , Enxaqueca com Aura/metabolismo , Adolescente , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análise , Química Encefálica , Canais de Cálcio/genética , Canais de Cálcio/fisiologia , Colina/análise , Creatina/análise , Disartria/etiologia , Disartria/metabolismo , Tremor Essencial/etiologia , Tremor Essencial/metabolismo , Feminino , Marcha Atáxica/etiologia , Marcha Atáxica/metabolismo , Ácido Glutâmico/análise , Hemiplegia/etiologia , Hemiplegia/genética , Hemiplegia/fisiopatologia , Humanos , Inositol/análise , Lactatos/análise , Masculino , Pessoa de Meia-Idade , Enxaqueca com Aura/etiologia , Enxaqueca com Aura/genética , Enxaqueca com Aura/fisiopatologia , Mutação , Lobo Parietal/química , Córtex Visual/química
6.
J Neurol Sci ; 144(1-2): 44-58, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8994103

RESUMO

We describe eight patients with slowly progressive speech production deficit combining speech apraxia, dysarthria, dysprosody and orofacial apraxia, and initially no other deficit in other language and non-language neuropsychological domains. Long-term follow-up (6-10 years) in 4 cases showed an evolution to muteness, bilateral suprabulbar paresis with automatic-voluntary dissociation and frontal lobe cognitive slowing without generalised intellectual deterioration. Most disabled patients presented with an anterior opercular syndrome (Foix-Chavany-Marie syndrome), and pyramidal or extrapyramidal signs. CT and MRI findings disclosed asymmetric (left > right) progressive cortical atrophy of the frontal lobes predominating in the posterior inferior frontal region, notably the operculum. SPECT and PET revealed a decreased cerebral blood flow and metabolism, prominent in the left posterior-inferior frontal gyrus and premotor cortex, extending bilaterally in the most advanced cases. Pathological study of two cases showed non-specific neuronal loss, gliosis, and spongiosis of superficial cortical layers, mainly confined to the frontal lobes, with no significant abnormalities in the basal ganglia, thalamus, cerebellum, brain stem (except severe neuronal loss in the substantia nigra in one case), and spinal cord. We propose to call this peculiar syndrome Slowly Progressive Anarthria (SPA), based on its specific clinical presentation, and its metabolic and pathological correlates. SPA represents another clinical expression of focal cortical degeneration syndromes, that may overlap with other similar syndromes, specially primary progressive aphasia and the various frontal lobe dementias.


Assuntos
Transtornos da Articulação/diagnóstico , Disartria/diagnóstico , Lobo Frontal/patologia , Idoso , Apraxias/diagnóstico , Apraxias/metabolismo , Transtornos da Articulação/metabolismo , Atrofia/diagnóstico , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/metabolismo , Criança , Diagnóstico por Imagem , Progressão da Doença , Disartria/metabolismo , Feminino , Seguimentos , Lobo Frontal/metabolismo , Humanos , Pessoa de Meia-Idade , Testes Neuropsicológicos , Paresia/diagnóstico , Paresia/metabolismo , Tratos Piramidais/patologia , Síndrome
8.
J Commun Disord ; 19(5): 347-66, 1986 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-3490498

RESUMO

Ten male patients with parkinsonism secondary to Parkinson's disease or progressive supranuclear palsy had clinical neurological, speech, and acoustical speech evaluations. In addition, seven of the patients were evaluated by x-ray computed tomography (CT) and (F-18)-fluorodeoxyglucose (FDG) positron emission tomography (PET). Extensive variability of speech features, both clinical and acoustical, were found and seemed to be independent of the severity of any parkinsonian sign, CT, or FDG PET. In addition, little relationship existed between the variability across each measured speech feature. What appeared to be important for the appearance of abnormal acoustic measures was the degree of overall severity of the dysarthria. These observations suggest that a better understanding of hypokinetic dysarthria may result from more extensive examination of the variability between patients. Emphasizing a specific feature such as rapid speaking rate in characterizing hypokinetic dysarthria focuses on a single and inconstant finding in a complex speech pattern.


Assuntos
Disartria/fisiopatologia , Acústica da Fala , Distúrbios da Fala/fisiopatologia , Fala , Idoso , Desoxiglucose/análogos & derivados , Disartria/diagnóstico , Disartria/etiologia , Disartria/metabolismo , Flúor , Fluordesoxiglucose F18 , Glucose/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson Secundária/complicações , Fonação , Radioisótopos , Paralisia Supranuclear Progressiva/complicações , Tomografia Computadorizada de Emissão
9.
Neurology ; 29(7): 917-26, 1979 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-572941

RESUMO

The separation of brain and fibroblast proteins was analyzed on two-dimensional acrylamide gels. Proteins were examined from skin fibroblast cultures and brain homogenates from the frontal cerebral cortex, putamen, and cerebellum. Protein species from skin fibroblast cultures of controls and patients with Joseph disease or Huntington disease were not significantly different. The proteins from homogenates of the cerebral cortex, putamen, and cerebellum from controls differed from those of one Joseph disease patient. Two major classes of proteins were increased in the patient's putamen and cerebellum. Proteins of 40,000 and 50,000 daltons--including the glial filamentous acidic protein complex (molecular weight 50,000), and two proteins which migrated near actin--were increased in the cerebellum. The glial filamentous acidic protein complex increased 3.7-fold in the putamen of the patient. These protein changes probably represent gliosis, but may also be an expression of the primary genetic mutation.


Assuntos
Encefalopatias/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Doenças Neuromusculares/metabolismo , Encefalopatias/genética , Encefalopatias/patologia , Disartria/metabolismo , Eletroforese em Gel de Poliacrilamida , Feminino , Marcha , Humanos , Pessoa de Meia-Idade , Doenças Neuromusculares/genética , Doenças Neuromusculares/patologia , Nistagmo Patológico/metabolismo
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