1/470. neurofibrillary tangles in the dementia of "normal pressure" hydrocephalus.Routine neuropathological examination could not explain the dramatic improvement exhibited by one patient with "normal pressure" hydrocephalus after shunting. The improved patient contrasted remarkably with the unchanged condition of four others also shunted successfully. The five brains were analysed by quantitative morphometry to determine the degree of neurofibrillary tangle formation in mesial temporal neurons. The density of tangle-bearing nerve cells in the four unimproved cases was markedly greater than in age-matched control brains from nineteen normal subjects, and fell in the same range as that of eight dements with neuropathologically confirmed Alzheimer's disease. The density of the one who recovered was within normal limits. The duration of dementia before shunting, and the total duration of dementia in these five patients rank in the same order as their degree of neurofibrillary formation. Furthermore, a positive linear correlation exists between the Tangle Indices and the total duration of dementia. The data suggest that early diagnosis may improve the chances of reversing the dementia of normal pressure hydrocephalus before histological alterations prove too severe.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/470. Lymphomatosis cerebri presenting as a rapidly progressive dementia: clinical, neuroimaging and pathologic findings.Primary central nervous system lymphoma (PCNSL) usually presents with clinical and neuroimaging findings consistent with single or multiple intracranial mass lesions. On cranial magnetic resonance imaging (MRI), such lesions are nearly always contrast enhancing, reflecting disruption of the blood-brain barrier at the site of tumor nodules. We describe 2 cases from the UCLA Medical Center who developed a rapidly progressive dementia due to extensive gray and white matter cerebral lesions involving much of the brain. In the patient who came to autopsy, widely infiltrating, focally necrotic B-cell plasmacytoid lymphoma was noted throughout the cerebral neuraxis. MRI findings in case 2 were consistent with diffuse lymphomatous brain infiltration without mass lesions, which was biopsy proven. We conclude that PCNSL may occur in a diffusely infiltrating form which may occur without MRI evidence of mass lesions or blood-brain barrier compromise. We refer to this entity as 'lymphomatosis cerebri' and add it to the differential diagnosis of a rapidly progressive dementia.- - - - - - - - - - ranking = 18.427104898861keywords = cerebral, brain (Clic here for more details about this article) |
3/470. Creutzfeldt-Jakob disease presenting with visual blurring, diplopia and visual loss: Heidenhain's variant.Focal electroencephalographic abnormalities as described in Heidenhain's variant of Creutzfeldt-Jakob disease are uncommon. We report a 73-year-old male presenting with visual symptoms, right hemianopia and rapidly progressive dementia. myoclonus was synchronous with generalised periodic epileptiform discharges on electroencephalography (EEG). In addition, there were periodic focal sharp waves at the left occipital region. diffusion-weighted magnetic resonance brain images showed slightly increased signal intensity in the occipital parasagittal area, left more than right. 14-3-3 protein was detected in the cerebrospinal fluid. The patient died within 5 months of presentation.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
4/470. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.We describe three sibling patients with autosomal dominantly inherited sensory neuropathy, sensorineural hearing loss and dementia. The features of cognitive-behavioral deficits in the patients, including executive dysfunction, apathy, indifference and inattention, were consistent with a frontal lobe dysfunction. magnetic resonance imaging showed a diffuse brain atrophy. A fluorodeoxyglucose positron emission tomography in one patient and a single photon emission computed tomography in another demonstrated a glucose hypometabolism or a hypoperfusion in the medial frontal and thalamic regions. Primary frontal involvement or frontal dysfunction secondary to thalamic lesions may contribute to the nature of dementia in these patients.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
5/470. Dementia following treatment of brain tumors with radiotherapy administered alone or in combination with nitrosourea-based chemotherapy: a clinical and pathological study.A retrospective clinical and pathological study of 4 patients who developed the syndrome of radiation induced dementia was performed. All patients fulfilled the following criteria: (1) a history of supratentorial irradiation; (2) no evidence of symptomatic recurrent tumor; (3) no other cause of progressive cerebral dysfunction and dementia. The clinical picture consisted of a progressive "subcortical" dementia occurring 3-12 months after a course of cerebral radiotherapy. Examination revealed early bilateral corticospinal tract involvement in all patients and dopa-resistant Parkinsonian syndrome in two. On CT scan and MRI of the brain, the main features consisted of progressive enlargement of the ventricles associated with a diffuse hypodensity/hyperintensity of the white matter best seen on T2 weighted images on MRI. The course was progressive over 8-48 months in 3 patients while one patient had stabilization of his condition for about 28 years. Treatment with corticosteroids or shunting did not produce sustained improvement and all patients eventually died. Pathological examination revealed diffuse white matter pallor with sparing of the arcuate fibers in all patients. Despite a common pattern on gross examination, microscopic studies revealed a variety of lesions that took two basic forms: (1) a diffuse axonal and myelin loss in the white matter associated with tissue necrosis, particularly multiple small foci of necrosis disseminated in the white matter which appeared different from the usual "radionecrosis"; (2) diffuse spongiosis of the white matter characterized by the presence of vacuoles that displaced the normally-stained myelin sheets and axons. Despite a rather stereotyped clinical and radiological course, the pathological substratum of radiation-induced dementia is not uniform. Whether the different types of white matter lesions represent the spectrum of a single pathological process or indicate that the pathogenesis of this syndrome is multifactorial with different target cells, remains to be seen.- - - - - - - - - - ranking = 18.927104898861keywords = cerebral, brain (Clic here for more details about this article) |
6/470. early diagnosis of the frontal variant of frontotemporal dementia: how sensitive are standard neuroimaging and neuropsychologic tests?OBJECTIVE: To examine the role of structural (magnetic resonance imaging [MRI]) and functional (single photon emission computed tomography [SPECT]) imaging and neuropsychologic evaluation in the early diagnosis of frontal variant frontotemporal dementia (fvFTD). BACKGROUND: Current criteria for FTD stress the need for neuropsychologic and functional neuroimaging abnormalities, yet caregivers report lengthy histories of behavioral change. It is not known when, in the course of the disease, these investigations become abnormal, because few longitudinal studies have been reported. METHOD: Longitudinal study of two patients with serial neuropsychologic evaluation and MRI and HMPAO-SPECT scanning. RESULTS: Both patients, men aged 49 and 50, had major changes in personality, behavior, and social conduct that progressed over 5 to 6 years in a way that conformed to the clinical picture of fvFTD. There was remarkably little abnormality on neuropsychologic testing, and MRI and HMPAO-SPECT findings initially were normal. Over time, however, abnormalities on SPECT, frontal atrophy on MRI, or a neuropsychologic profile more typical of fvFTD developed in both patients. CONCLUSIONS: Standard neuropsychologic tests and conventional brain imaging techniques (MRI and SPECT) may not be sensitive to the early changes in fvFTD that occur in the ventromedial frontal cortex, and better methods of accurate early detection are required. These findings are relevant to the diagnostic criteria for FTD.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
7/470. amyotrophic lateral sclerosis with dementia. Case report.A patient is described in whom a profound and rapidly progressive dementia occurred in association with clinical features of amyotrophic lateral sclerosis. A magnetic resonance imaging showed signs of frontal and especially left temporal atrophy. The pattern of dementia indicated impaired frontotemporal lobe functions, evidenced by reduced tracer uptake in the frontotemporal lobes on brain single photon emission computed tomography. Neuropathological examination in this patient revealed mild frontotemporal atrophy with spongiform changes and neuronal loss affecting mainly layers II and III of the frontotemporal cortices. There was atrophy of the hypoglossal nuclei. The spinal cord changes were consistent with motor neuron disease. The patient showed an irreversible and progressive course. A review of the relevant literature was made.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
8/470. A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a predominantly frontotemporal dementia but also by the presence of neurological signs consistent with the dysfunction of multiple subcortical neuronal circuitries. Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. We carried out molecular genetic and neuropathological studies on two patients from a French family presenting, early in their fifth decade, a cognitive impairment and supranuclear palsy followed by an akinetic rigid syndrome and dementia. The proband died severely demented 7 years after the onset of the symptoms; currently, his brother is still alive although his disease is progressing. In both patients, we found a Tau gene mutation in exon 10 at codon 279, resulting in an asparagine to lysine substitution (N279K). Neuropathologically, widespread neuronal and glial tau accumulation in the cortex, basal ganglia, brain stem nuclei as well as in the white matter were the hallmark of the disease. These deposits were shown by immunohistochemistry and immunoelectron microscopy, using a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes present in multiple tau regions. In the neocortex, tau-immunopositive glial cells were more numerous than immunopositive neurons; the deeper cortical layers as well as the white matter adjacent to the cortex contained the largest amount of immunolabeled glial cells. In contrast, some brain stem nuclei contained more neurons with tau deposits than immunolabeled glial cells. The correlation of clinical, neuropathological and molecular genetic findings emphasize the phenotypic heterogeneity of diseases caused by Tau gene mutations. Furthermore, to test the effect of the N279K mutation and compare it with the effect of the P301L exon 10 mutation on alternative splicing of Tau exon 10, we used an exon amplification assay. Our results suggest that the N279K mutation affects splicing similar to the intronic mutations, allowing exon 10 to be incorporated more frequently in the Tau transcript.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/470. Intracranial dural arteriovenous fistula (DAVF) presenting progressive dementia and parkinsonism.We studied three patients with dural arteriovenous fistula (DAVF). Major symptoms were progressive dementia and parkinsonism, both of which progressed in step-wise fashion. Two of the three patients showed diffuse cerebral white matter lesions on brain CT and MRI. Progressive dementia and parkinsonism in our patients could be caused by diffuse cerebral parenchymal disturbance: impaired cerebral circulation due to severe venous hypertension. DAVF is important for the differential diagnosis in patients with progressive dementia and parkinsonism.- - - - - - - - - - ranking = 25.140657348291keywords = cerebral, brain (Clic here for more details about this article) |
10/470. An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia.We herein report the findings of an autopsy case of spinocerebellar ataxia type 6 (SCA6) which revealed a mild CAG-repeat expansion in the alpha1A voltage-dependent calcium channel (CACNL1A4) gene on chromosome 19p13. A 39-year-old man who showed slowly progressive mental disorders and gait ataxia was clinically diagnosed to have cortical cerebellar atrophy (CCA) and schizophrenia. None of his relatives revealed any symptoms such as spinocerebellar disease, however, his younger brother had shown some mental disorders. The patient eventually died at 52 years of age, and an autopsy was thus performed. The main histopathological findings included a severe neuronal cell loss of purkinje cells and inferior olivary nuclei. The number of purkinje cells in our case had decreased severely in comparison to that in either OPCA or age-matched control cases, and the purkinje cells in the cerebellar hemisphere were more affected than those in the cerebellar vermis. The neurons of the dentate nucleus and pontine nuclei were well-preserved, and no pathological changes were seen in cerebral cortices or basal ganglia. The clinicopathological findings were similar to those of late cortical cerebellar atrophy (LCCA), Holmes' cortical cerebellar atrophy (Holmes type) or SCA6 cases reported previously. Using genomic dna extracted from archival paraffin-embedded sections in the frontal lobe, cerebral basal ganglia and cerebellum, the identical mild CAG-repeat expansions in the CACNL1A4/SCA6 gene were revealed in all samples examined. These findings suggest that in cases with LCCA or Holmes type atrophy, we should thus examine the CAG-repeat expansions in the SCA6 gene, and the genomic dna extracted from paraffin-embedded sections was thus found to be useful in diagnosing SCA6 retrospectively.- - - - - - - - - - ranking = 16.427104898861keywords = cerebral (Clic here for more details about this article) |
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