1/17. Hemiballism with hyperglycemia and striatal T1-MRI hyperintensity: an autopsy report.We report on an autopsy findings of a 92-year-old male with hemiballism-hemichorea associated with hyperglycemia and striatal hyperintensity on T1-weighed magnetic resonance imaging (MRI), a recently described clinicoradiological syndrome. Histologically, the putamen contralateral to the hemiballism consisted of multiple foci of recent infarcts associated with reactive astrocytic and interneuronal response. Substrate responsible for the MRI signal changes is still inconclusive. copyright movement Disorder Society.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/17. PET findings and neuropsychological deficits in a case of Fahr's disease.In a case of Fahr's disease with frontal lobe type dementia and hyperkinetic-hypotone syndrome, functional changes were investigated using positron emission tomography (PET) with (18)F-fluorodeoxyglucose (FDG) as a tracer. Computed tomography showed bilateral calcifications in the putamen and globus pallidus consistent with the diagnosis of Fahr's disease and a frontally pronounced brain atrophy. In contrast, reduced glucose uptake in PET was not only confined to the areas mentioned above, but extended to the temporal and parietal cortices, bilaterally. These functional changes corresponded to the neuropsychological deficits observed, i.e. disturbed selective attention and cognitive flexibility, verbal perseverations, and declarative memory deficits. It is suggested that functional changes may precede cerebral atrophy in Fahr's disease and may reflect deficits in functional circuits, which involve both the basal ganglia and the frontal, parietal, and temporal lobes.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
3/17. Neuropathology of Raine syndrome.We present three cases of Raine syndrome occurring in siblings of consanguineous parents. Raine syndrome is characterised by generalised osteosclerosis with craniofacial anomalies and intracranial calcifications. So far, only nine cases have been reported, and no evaluation of the distribution and extent of the cerebral mineralisations, as well as their impact on the surrounding tissue, has been undertaken yet. In our cases, calcifications were unevenly distributed throughout the central nervous system, not associated with neuronal loss or dystrophic events and appeared mostly as single calcospherites within the neuropil with occasional confluent deposits at advanced gestational age. There was intense perifocal microgliosis around single immature calcospherites, as well as mild astrogliosis around and within the confluent lesions, in which occasional macrophages could be found. Rarely, mineralisations occurred in blood-vessel walls, mainly affecting basal ganglia. Preferential sites of calcification were parietal and occipital periventricular white matter and corpus callosum, while frontal lobes were mildly affected. The cortex, temporal lobes as well as internal capsule, brain stem, cerebellum, leptomeninges, pituitary gland and choroid plexus were devoid of mineralisations. The subcortical grey matter was moderately involved in the putamen and pallidum, mildly in the caudate nucleus and subependymal germ cell matrix and not at all in the thalamus, Ammon's horn, amygdala and substantia nigra. The distribution of mineral deposits was thus inversely correlated to regional blood circulation and capillary density, with calcifications being concentrated in more sparsely perfused areas but lacking in highly vascularised tissue. This inverse relationship between mineralisation and regional blood flow was reflected in the varying distribution of calcospherites in grey and white matter as well as in the white matter of different lobes.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
4/17. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa-responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa-responsive dystonia. However, the actual status of dopaminergic systems in asymptomatic cases is unknown. In the autopsied putamen of an asymptomatic GCH1 mutation carrier, we found that brain biopterin loss (-82%) paralleled that reported in dopa-responsive dystonia patients (-84%). However, tyrosine hydroxylase protein and dopamine levels (-52 and -44%, respectively) were not as severely affected as in symptomatic patients (exceeding -97 and -88%, respectively). Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa-responsive dystonia symptomatology.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
5/17. Striato-nigral degeneration and shy-drager syndrome (idiopathic orthostatic hypotension).The present paper reports on a case which evolved clinically with a Parkinson syndrome and attacks of orthostatic hypotension. Dystrophic lesions were found in the substrantia nigra, putamen and autonomic bulbo-medullary axis. This case demonstrates that striato-nigral degeneration of the Adams, van Bogaert and van der Eecken type and the shy-drager syndrome (orthostatic hypotension with neurologic syndrome) are part of the same pathiologic entity respesenting nervous multisystem degeneration developing in the presenium.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
6/17. Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study.Pearson's syndrome is a disease of refractory sideroblastic anemia and exocrine pancreatic dysfunction due to abnormal mitochondrial dna (mtDNA). A male infant with Pearson's syndrome developed necrosis of both thalami and basal ganglia when he suffered from gastroenteritis at 1 year and 11 months of age. He died of sepsis at the age of 2 years and 4 months. Analysis of mtDNA from various organs revealed abnormal mtDNA with deletion by 5 kbp, confirming the diagnosis. At autopsy, the brain had symmetrical cavities in putamen, caudate nuclei and medial nuclei of the thalami. Ferruginous granules in nerve cells in medial thalamic nuclei, and scattered round bodies with neuronophagia in lateral nuclei were found at light microscopic observation. Electron microscopy showed that these granules were composed of radiating spicules and a dense layer containing packed cytoplasmic organelles, respectively. The macroscopic distribution of brain lesions was very similar to and characteristic of Leigh's disease. This similarity leads to the supposition that defective intracellular energy utilization common to Leigh's disease could be responsible for brain lesions in this case. Although the histological appearance was somewhat atypical for Leigh's disease, very acute formation of brain lesions in this case was thought to have caused the histological difference.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
7/17. Corticobasal syndrome with novel argyrophilic glial inclusions.A 42-year-old, left-handed woman first noted impaired dexterity of the dominant hand, soon followed by dysarthria and cognitive decline. Over a 4-year period, she developed severe left-sided apraxia with eventual neglect of the left arm and progressive extrapyramidal signs. Cognitive testing showed progressive executive, visuospatial, fluency, and naming impairment with relative preservation of memory. Single-photon emission computed tomography demonstrated asymmetric right posterior frontal and superior parietal hypoperfusion. The clinical impression was corticobasal degeneration. At autopsy, severe atrophy was seen in the perirolandic and frontal regions. There was marked neuronal loss and gliosis in the posterior frontal and precentral regions and less severe pathology in prefrontal, temporal, and parietal areas. Mild to moderate gliosis and neuronal loss were also seen in the putamen, globus pallidus, subthalamic, and dentate nuclei. Gallyas silver stain revealed numerous inclusions adjacent to oligodendrocyte nuclei in white and gray matter of affected cortical and subcortical regions. The gracile inclusions were wavy, slender, and stained positively with antibodies to ubiquitin and alphaB-crystallin but not to microtubule-associated proteins (tau, MAP1B, MAP2), tubulin, neurofilaments, glial fibrillary acidic protein, or alpha-synuclein. The argyrophilic inclusions identified in this case are distinct from those previously described in neurodegenerative diseases.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
8/17. Camptocormia or Pisa syndrome in multiple system atrophy.Although a mild stooped posture is a hallmark of parkinsonism, extreme trunk forward flexion is not common. This phenomenon was described in different etiological entities and called camptocormia. Other similar presentations called Pisa syndrome and antecollis were described mainly in extrapyramidal disorders. Authors present two cases of probable multiple system atrophy (MSA) with predominant parkinsonism and Pisa syndrome (or camptocormia). Both of them were previously misdiagnosed as idiopathic Parkinson's disease (PD) and one was reported 1 year earlier. The typical clinical presentation fulfilling the diagnostic criteria for multiple system atrophy, rapid progression with lack of responsiveness to L-DOPA and apomorphine and typical MRI putaminal pathology observed in both cases allowed us to make a diagnosis. Accuracy of clinical diagnosis in multiple system atrophy is still very poor. Therefore, unusual or rare clinical presentations may support the final diagnosis. The camptocormia, Pisa syndrome and antecollis may represent the continuum of the same motor phenomenon and most of the authors refer them to unusual form of axial dystonia. According to many clinical presentations on different forms of camptocormia/Pisa syndrome authors conclude that not etiology, but the localization of specific lesion, probably within putamen is responsible for that form of dystonia. In cases of parkinsonism and severe forward flexion of trunk multiple system atrophy, diagnosis should be considered.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
9/17. Corticobasal degeneration. A unique pattern of regional cortical oxygen hypometabolism and striatal fluorodopa uptake demonstrated by positron emission tomography.Corticobasal degeneration presents with an asymmetric akinetic-rigid syndrome, apraxia and combinations of supranuclear gaze palsy, myoclonus, and an alien limb. Six patients aged 59-77 yrs, diagnosed on clinical criteria as having corticobasal degeneration, have been studied with positron emission tomography using tracers of dopamine storage capacity and oxygen metabolism. Striatal 18F-6-fluorodopa uptake was reduced in an asymmetric pattern, caudate and putamen being involved in all cases. Uptake into medial frontal cortex was also impaired. Regional cortical oxygen metabolism was most significantly depressed in the superior and posterior temporal, inferior parietal, and occipital associated cortices. Within the frontal lobe, the hypometabolism was chiefly posterior. This unique combination of regional hypometabolism and disruption of the nigrostriatal system is discussed in relation to the clinical features of the disease and is compared with reported findings in other disorders of cognition and movement.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
10/17. Regional brain glucose metabolism in neuroacanthocytosis.Two brothers with neuroacanthocytosis had [18F]-2-fluoro-2-deoxyglucose PET scans showing marked glucose hypometabolism of the caudate and putamen. MRIs showed no evidence of atrophy or modification of signal intensity in these structures. Decreased glucose utilization of the striatum can underlie hyperkinetic movement disorders of various etiologies.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
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