1/12. Tourettism as clinical presentation of Huntington's disease with onset in childhood.Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease. An MRI exam performed 26 months after disease onset disclosed bilateral atrophy in the putamen, suggesting HD. The diagnosis was confirmed by genetic analysis. The present report underlines the need to consider HD in childhood cases of unusual and even unfamiliar progressive movement disorders.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/12. Transplanted fetal striatum in Huntington's disease: phenotypic development and lack of pathology.Neural and stem cell transplantation is emerging as a potential treatment for neurodegenerative diseases. Transplantation of specific committed neuroblasts (fetal neurons) to the adult brain provides such scientific exploration of these new potential therapies. Huntington's disease (HD) is a fatal, incurable autosomal dominant (CAG repeat expansion of huntingtin protein) neurodegenerative disorder with primary neuronal pathology within the caudate-putamen (striatum). In a clinical trial of human fetal striatal tissue transplantation, one patient died 18 months after transplantation from cardiovascular disease, and postmortem histological analysis demonstrated surviving transplanted cells with typical morphology of the developing striatum. Selective markers of both striatal projection and interneurons such as dopamine and c-AMP-related phosphoprotein, calretinin, acetylcholinesterase, choline acetyltransferase, tyrosine hydroxylase, calbindin, enkephalin, and substance p showed positive transplant regions clearly innervated by host tyrosine hydroxylase fibers. There was no histological evidence of immune rejection including microglia and macrophages. Notably, neuronal protein aggregates of mutated huntingtin, which is typical HD neuropathology, were not found within the transplanted fetal tissue. Thus, although there is a genetically predetermined process causing neuronal death within the HD striatum, implanted fetal neural cells lacking the mutant HD gene may be able to replace damaged host neurons and reconstitute damaged neuronal connections. This study demonstrates that grafts derived from human fetal striatal tissue can survive, develop, and are unaffected by the disease process, at least for 18 months, after transplantation into a patient with HD.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
3/12. Regional cerebral glucose metabolism differs in adult and rigid juvenile forms of huntington disease.A 7-year-old girl with the juvenile form of huntington disease is described. She had personality changes, speech and gait disturbances, diffuse rigidity, dementia, and a well-documented family history of huntington disease. electroencephalography revealed bilateral epileptic foci; however, she had no seizures. Positron emission tomography using [18F]-2-fluoro-2-deoxy-D-glucose with an improved method for quantification of glucose metabolism in anatomically defined regions of interest demonstrated marked hypometabolism in the caudate nuclei and putamen, as is observed in adults with the disease. glucose metabolism was also reduced in the posterior nuclei of the thalamus. Adults with Huntington disease have consistently demonstrated normal or increased rates of thalamic glucose metabolism. The findings suggest that brain metabolic alterations of huntington disease in children differ from those in adults which is consistent with the postmortem pathologic differences previously recognized.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
4/12. A morphometric reevaluation of Huntington's chorea with special reference to the large neurons in the neostriatum.In order to reevaluate the quantitative changes in the neostriatum of Huntington's chorea (HC), sections of the caudate head and putamen from 4 HC and 5 control cases were treated with Kluver-Barrera stain and the nuclear area of the neurons was measured by a digitizer. The number of neurons of different sizes was evaluated statistically. This study revealed a significant decrease in the number of large neurons (nuclear area; greater than 121 microns 2) as well as a severe decrease in the number of small neurons (nuclear area; less than 80 microns 2) in the neostriatum of HC. There was a parallel degree of neuronal loss in the upper and lower portions of both caudate head and putamen. The degree of neuronal loss was slightly more severe in the putamen than in the caudate head. The depletion of the large neurons was not correlated with the loss of small neurons. The number of medium-sized neurons (nuclear area; 81-120 microns 2) showed no statistically significant change.- - - - - - - - - - ranking = 3keywords = putamen (Clic here for more details about this article) |
5/12. Quantitative autoradiography of neurotransmitter receptors in huntington disease.We studied gamma-aminobutyric acid (GABA), benzodiazepine, and muscarinic cholinergic receptor-binding by quantitative autoradiography. In coronal sections from the brain of a patient with huntington disease, binding for all three receptors in caudate and putamen was lower than control values. Binding to GABA and benzodiazepine receptors was increased in lateral and medial pallidum and decreased in ventrolateral thalamus. Muscarinic cholinergic receptors were markedly decreased in pallidum but not thalamus. The findings suggest that loss of striatal afferents to both segments of pallidum results in GABA and benzodiazepine receptor supersensitivity, and support the utility of quantitative autoradiography for receptor studies in human postmortem material.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
6/12. A case of Huntington's chorea with unilateral ectopic gray matter.The authors report a single case of Huntington's chorea associated with a unilateral focus of ectopic gray matter. The patient's symptoms began at age 45 and included typical involuntary jerking movements of all extremities and face. Mental deterioration may have proceeded the choreiform movements. The family history was positive for Huntington's chorea. Pneumoencephalogram showed atrophy of the caudate nuclei bilaterally early in the disease. The patient improved transiently with haloperidol therapy. The major pathologic features included mild generalized cerebral atrophy with marked atrophy of the caudate nuclei and putamen. Within the white matter of the left frontal lobe, there were irregular nodules of ectopic gray matter with an overall diameter of 2 cm. The rarity of either unilateral ectopia or Huntington's chorea alone, makes it impossible to judge if the two lesions might be linked by a common pathologic mechanism. The significance such a linkage might hold is discussed in light of several currently postulate pathologic mechanisms.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
7/12. The neuropathological features of neuroacanthocytosis.In this article we describe the neuropathological changes in three patients with neuroacanthocytosis and review the neuropathology of the other eight cases reported in the literature. Macroscopically the brains showed enlargement of the lateral ventricles, especially the frontal horns. The most severely and consistently affected brain areas were the caudate nucleus and putamen, which were atrophic and showed by light microscopy marked neuronal loss and gliosis. Small and medium-sized striatal neurons were particularly depleted. The globus pallidus was almost as severely involved as the striatum. In some cases the thalamus, substantia nigra, and anterior horns of the spinal cord showed pathology, mainly neuronal loss and mild gliosis. brain areas with no pathology included the subthalamic nucleus, cerebral cortex, cerebellum, pons, and medulla. The preservation of these areas may help in the neuropathological distinction of neuroacanthocytosis from Huntington's disease.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
8/12. A neuropathological study of a case of lupus erythematosus with chorea.Neuropathological examination in a 48-year-women of SLE with chorea was performed. Histological examination of the putamen showed a widespread neuronal loss associated with reactive astrocyte proliferation and neuropil rarefaction at both sides. Disappearance of large neurons was more prominent than that of small ones. Although a few old and fresh microinfarcts were scattered in the same area, there was no significant pathological abnormality in small vessels. The caudate nuclei also showed a few irregular microinfarcts and spotty loss of neurons associated with reactive astrocytosis. These neuropathological changes might be related to the appearance of choreatic movement in patients with SLE.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
9/12. Neuropsychological and neuroradiological study of a case of early-onset Huntington's chorea.The authors report a case of Huntington's disease in an 11-year-old boy with onset at six years of age. The neurological signs and symptoms were midway between the hyperkinetic and rigid forms of chorea. Intellectual development was characterized by a medium-grade deficit. MRI revealed marked atrophy of the head of the caudate nucleus, with diffuse hyperintensity of the putamen. The most characteristic neuropsychological feature was ideomotor apraxia. Neuropsychological and neuroradiological data are discussed in relation to the role of the basal nuclei and frontal cortex in the organization of movement.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
10/12. brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of static extrapyramidal CP, hypoxic-ischemic encephalopathy at the end of a term gestation, produces a characteristic pattern of hyperintense signal and atrophy in the putamen and thalamus. Other signal abnormalities and atrophy in the putamen, globus pallidus, or caudate can point to genetic-metabolic diseases, including disorders of mitochondrial and organic acid metabolism. Progress in understanding and treating genetic diseases of the developing brain makes it essential to diagnose disorders that masquerade as static CP. brain magnetic resonance imaging is a useful diagnostic tool in the initial evaluation of children who appear to have CP.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
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