Asunto(s)
Encéfalo/patología , Proteínas de Unión al ADN/metabolismo , Trastornos de Deglución/patología , Disartria/patología , Parálisis Facial/patología , Proteinopatías TDP-43/patología , Anciano , Encéfalo/metabolismo , Trastornos de Deglución/metabolismo , Disartria/metabolismo , Parálisis Facial/metabolismo , Femenino , Humanos , Proteinopatías TDP-43/metabolismoRESUMEN
No disponible
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Humanos , Femenino , Adulto , Intoxicación/complicaciones , Intoxicación/metabolismo , Anestesia Local/efectos adversos , Anestesia Local/métodos , Insuficiencia Cardíaca/patología , Disartria/complicaciones , Disartria/genética , Fiebre/diagnóstico , Intoxicación/clasificación , Intoxicación/prevención & control , Anestesia Local/clasificación , Anestesia Local , Insuficiencia Cardíaca/metabolismo , Disartria/metabolismo , Disartria/fisiopatología , Fiebre/complicacionesRESUMEN
Introduction. Advances in neuroimaging techniques have sparked a growing interest in the study of the cerebellum and its role in the cognitive processes. It is becoming increasingly clear that there is a relationship between this organ and linguistic production, and between pathologies of the cerebellum and some language disorders, such as cerebellar dysarthria. Aims. To review the contribution made by the cerebellum to the linguistic functions, to analyse the language disorders that derive from cerebellar diseases and to propose the use of speech therapy intervention in conditions of this kind. Developments. An analysis is performed to determine the role of the cerebellum as a modulator in language, of cerebellar dysarthria, of the aetiological factors and of the clinical manifestations that can be observed in verbal production.Procedures for functional assessment and the contents of speech therapy treatment are proposed. Conclusions. The acquisition of language in early childhood is conditioned by, among other things, the anatomical shaping and neurophysiological activity of the cerebellum. Alterations affecting the development of the structure of the cerebellum, as well as the pathologies and neurophysiological dysfunctions affecting it, can lead to language disorders. The speech therapists diagnosis must be used to start treatment as early as possible, which will affect the perceptive organisation, motor skills, cognitive profile and linguistic competencies. The work programme will be drawn up in a global and interdisciplinary manner. The intervention of family members and their participation in the therapeutic process will make an invaluable contribution to have positive recovery environments (AU)
Introducción. Los avances en las técnicas de neuroimagen han propiciado un creciente interés por el estudio del cerebelo y su participación en los procesos cognitivos. Es cada vez más evidente la relación que existe entre este órgano y la producción lingüística, y entre las patologías cerebelosas y determinados trastornos del lenguaje, como la disartria cerebelosa.Objetivo. Revisar la contribución del cerebelo a las funciones lingüísticas, analizar los trastornos del lenguaje que derivan de las enfermedades cerebelosas y plantear la intervención logopédica en este tipo de afectaciones. Desarrollo. Se realiza un análisis de la función moduladora del cerebelo en el lenguaje, de la disartria cerebelosa, de los factores etiológicos y de las manifestaciones clínicas observables en la producción verbal. Se plantean los procedimientos para la valoración funcional y los contenidos del tratamiento logopédico. Conclusiones. La adquisición del lenguaje en la infancia está condicionado, entre otros aspectos, por la conformación anatómica y la actividad neurofisiológica del cerebelo. Las alteraciones en el desarrollo de la estructura cerebelosa, las patologías y las disfunciones neurofisiológicas de éste pueden ocasionar trastornos del lenguaje. El diagnóstico logopédico ha de servir para iniciar lo más pronto posible el tratamiento, que incidirá en la mejora de la organización perceptiva, las habilidades motrices, el perfil cognitivo y las competencias lingüísticas. El programa de trabajo se planteará de manera global e interdisciplinar. La intervención familiar y su participación en el proceso terapéutico será una contribución de gran valor para contar con entornos de recuperación positivos (AU)
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Humanos , Masculino , Femenino , Niño , Trastornos del Desarrollo del Lenguaje/complicaciones , Trastornos del Desarrollo del Lenguaje/genética , Cerebelo/anomalías , Cerebelo/lesiones , Degeneraciones Espinocerebelosas/complicaciones , Degeneraciones Espinocerebelosas/genética , Disartria/genética , Disartria/metabolismo , Trastornos del Desarrollo del Lenguaje/psicología , Trastornos del Desarrollo del Lenguaje/terapia , Cerebelo/metabolismo , Degeneraciones Espinocerebelosas/diagnóstico , Degeneraciones Espinocerebelosas/terapia , Disartria/psicología , Disartria/terapiaRESUMEN
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.
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Tejido Adiposo/patología , Enfermedad del Almacenamiento de Glucógeno Tipo III/patología , Glucógeno/metabolismo , Debilidad Muscular/patología , Lengua/patología , Tejido Adiposo/metabolismo , Adulto , Animales , Niño , Trastornos de Deglución/metabolismo , Trastornos de Deglución/patología , Perros , Disartria/metabolismo , Disartria/patología , Femenino , Sistema de la Enzima Desramificadora del Glucógeno/deficiencia , Sistema de la Enzima Desramificadora del Glucógeno/genética , Enfermedad del Almacenamiento de Glucógeno Tipo III/metabolismo , Humanos , Persona de Mediana Edad , Debilidad Muscular/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Mutación , Lengua/metabolismoRESUMEN
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.
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Degeneración Hepatolenticular/tratamiento farmacológico , Trientina/uso terapéutico , Acetato de Zinc/uso terapéutico , Ataxia/complicaciones , Ataxia/diagnóstico , Disartria/complicaciones , Disartria/genética , Disartria/metabolismo , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/genética , Humanos , Hígado/metabolismo , Masculino , Mutación/genética , Resultado del Tratamiento , Adulto JovenAsunto(s)
Cerebelo/metabolismo , Miocimia/metabolismo , Tomografía de Emisión de Positrones , Degeneraciones Espinocerebelosas/metabolismo , Adolescente , Adulto , Edad de Inicio , Cerebelo/diagnóstico por imagen , Cerebelo/patología , Disartria/diagnóstico por imagen , Disartria/genética , Disartria/metabolismo , Femenino , Fluorodesoxiglucosa F18 , Genes Dominantes , Humanos , Canal de Potasio Kv.1.1/genética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Miocimia/diagnóstico por imagen , Miocimia/genética , Lóbulo Occipital/diagnóstico por imagen , Lóbulo Occipital/metabolismo , Linaje , Radioisótopos , Degeneraciones Espinocerebelosas/diagnóstico por imagen , Degeneraciones Espinocerebelosas/genética , SíndromeRESUMEN
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.
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Cerebelo/química , Hemiplejía/metabolismo , Espectroscopía de Resonancia Magnética , Migraña con Aura/metabolismo , Adolescente , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análisis , Química Encefálica , Canales de Calcio/genética , Canales de Calcio/fisiología , Colina/análisis , Creatina/análisis , Disartria/etiología , Disartria/metabolismo , Temblor Esencial/etiología , Temblor Esencial/metabolismo , Femenino , Ataxia de la Marcha/etiología , Ataxia de la Marcha/metabolismo , Ácido Glutámico/análisis , Hemiplejía/etiología , Hemiplejía/genética , Hemiplejía/fisiopatología , Humanos , Inositol/análisis , Lactatos/análisis , Masculino , Persona de Mediana Edad , Migraña con Aura/etiología , Migraña con Aura/genética , Migraña con Aura/fisiopatología , Mutación , Lóbulo Parietal/química , Corteza Visual/químicaRESUMEN
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.
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Trastornos de la Articulación/diagnóstico , Disartria/diagnóstico , Lóbulo Frontal/patología , Anciano , Apraxias/diagnóstico , Apraxias/metabolismo , Trastornos de la Articulación/metabolismo , Atrofia/diagnóstico , Enfermedades de los Ganglios Basales/diagnóstico , Enfermedades de los Ganglios Basales/metabolismo , Niño , Diagnóstico por Imagen , Progresión de la Enfermedad , Disartria/metabolismo , Femenino , Estudios de Seguimiento , Lóbulo Frontal/metabolismo , Humanos , Persona de Mediana Edad , Pruebas Neuropsicológicas , Paresia/diagnóstico , Paresia/metabolismo , Tractos Piramidales/patología , SíndromeAsunto(s)
Encéfalo/diagnóstico por imagen , Disartria/diagnóstico , Encéfalo/metabolismo , Desoxiglucosa/análogos & derivados , Disartria/diagnóstico por imagen , Disartria/metabolismo , Fluorodesoxiglucosa F18 , Glucosa/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada de EmisiónRESUMEN
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.
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Disartria/fisiopatología , Acústica del Lenguaje , Trastornos del Habla/fisiopatología , Habla , Anciano , Desoxiglucosa/análogos & derivados , Disartria/diagnóstico , Disartria/etiología , Disartria/metabolismo , Flúor , Fluorodesoxiglucosa F18 , Glucosa/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson Secundaria/complicaciones , Fonación , Radioisótopos , Parálisis Supranuclear Progresiva/complicaciones , Tomografía Computarizada de EmisiónRESUMEN
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.