1/14. Parkinsonism, dementia and vertical gaze palsy in a Guamanian with atypical neuroglial degeneration.A 58-year-old Chamorro female patient, who died in 1993, was examined clinicopathologically. At the age of 51, she suffered from hemiparkinsonism, then bradykinesia, rigidity without tremor, and dementia. Extrapyramidal symptoms developed, and at the age of 57, vertical gaze palsy was noted. The clinical diagnosis was parkinsonism-dementia complex (PDC) with vertical gaze palsy. The brain showed atrophy in the frontal and temporal lobes, and the atrophy was accentuated in the dentate gyrus, Ammon's horn and parahippocampal gyrus. The basal ganglia, thalamus and midbrain were moderately atrophic. The substantia nigra and locus ceruleus were completely depigmented. Numerous neurofibrillary tangles (NFTs) were seen in the subiculum and amygdaloid nucleus. Many NFTs were evident in the parahippocampal gyrus, lateral occipitotemporal gyrus, insula, Sommer sector, basal nucleus of meynert, lateral nucleus of the thalamus, subthalamic nucleus and brain stem, and several were observed in the globus pallidus and hypothalamus. The Sommer sector, substantia nigra, locus ceruleus and basal nucleus of meynert showed severe loss of neurons, and a moderate loss of neurons was exhibited by the globus pallidus. These findings were apparently consistent with those associated with PDC. However, in this patient, severe neuronal loss was seen in the subthalamic nucleus and lateral nucleus of the thalamus, and grumose degeneration, which has not previously been reported in PDC, was seen in the dentate nucleus. In addition, many tufted astrocytes, which have been reported to occur in progressive supranuclear palsy (PSP) and postencephalitic parkinsonism, but scarcely observed in PDC, were present. Furthermore, astrocytic plaques, which have been considered as a specific finding of corticobasal degeneration (CBD), were observed in the cerebral cortex. On the other hand, granular hazy astrocytic inclusions, previously reported to occur in PDC, were not seen. Chromatolytic neurons were not observed. The question thus arises as to whether it is appropriate to consider this patient as having suffered from a combination of PDC, PSP and CBD. From the view points of absence of granular hazy astrocytic inclusions and chromatolytic neurons, and of tufted astrocytes in the neostriatum, it is conceivable that this patient is a case of a new disease entity.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/14. Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10 11-splice site in the tau gene.We report a case of familial frontotemporal dementia and parkinsonism characterized by early onset with mental retardation. The patient died at the age of 54; neuronal loss was severe in the frontal and temporal cortices, globus pallidus, substantia nigra, red nucleus and dentate nucleus. Anti-tau-positive fibrillary changes were observed in neurons and glia in these regions. Although the patient had 2 novel point mutations of the tau gene, P301P (CCG to CCA) and an intron 10 11-splice site (T to C), exon trapping analysis indicated that the latter was pathogenic.- - - - - - - - - - ranking = 0.25keywords = nucleus (Clic here for more details about this article) |
3/14. Familial diffuse lewy body disease, eye movement abnormalities, and distribution of pathology.BACKGROUND: Familial diffuse lewy body disease (DLBD) is rare and not yet associated with a defect in the synuclein gene. In the differential diagnosis of the parkinsonian syndromes, defects in vertical gaze tend to be identified with progressive supranuclear palsy. False-positive diagnosis of progressive supranuclear palsy can occur, and defects in vertical gaze have been reported in DLBD, although so far a pure vertical gaze palsy associated with pathological abnormalities in the substrate for vertical gaze has not been described. OBJECTIVES: To report the clinical and pathological findings in 2 siblings with DLBD, and to relate the distribution of the pathological abnormalities in the brainstem to centers for vertical gaze. MATERIALS: For several years, 2 Irish siblings experienced a progressive parkinsonism-dementia complex associated in one with a defect in vertical gaze and in both with visual hallucinations. RESULTS: In both patients, results of pathological examination revealed (1) Lewy bodies positive for ubiquitin and alpha-synuclein together with cell loss and gliosis in the substantia nigra, locus ceruleus, and neocortex; and (2) similar findings in the rostral interstitial nucleus of the medial longitudinal fasciculus, the posterior commissure, and the interstitial nucleus of Cajal (substrates for vertical gaze). CONCLUSIONS: Familial DLBD (not shown to be genetically as distinct from environmentally transmitted) has been shown to exist in an Irish family. Caution should be enjoined in the interpretation of defects in vertical gaze in the differential diagnosis of the parkinsonian syndromes.- - - - - - - - - - ranking = 0.25keywords = nucleus (Clic here for more details about this article) |
4/14. Swelling of the intratemporal facial nerve in Ramsay Hunt syndrome.Although Ramsay Hunt syndrome is one of the most important diseases causing peripheral facial palsy, the detailed pathology of the disease in the intratemporal facial nerve remains unclear. The purpose of this study was to increase knowledge of the pathogenesis of the syndrome by means of surgical findings. Between April 1976 and March 1997 we performed subtotal decompression of the facial nerve in 74 patients with severe Ramsay Hunt syndrome. The grade of nerve swelling was assessed using a microscope and recorded in a standardized form. The relationships between nerve swelling, the timing of surgery and the swelling of each segment were analyzed. Pronounced neural swelling, involving the geniculate ganglion and the horizontal segment, was consistent finding in the acute phase. Although the incidence of pronounced swelling of the horizontal segment gradually declined with time after onset, in most cases nerve swelling persisted even beyond the 16th week after onset. These data suggest that diffuse viral neuritis occurs throughout the intratemporal facial nerve. We assume that the viral inflammatory swelling involving the geniculate ganglion and horizontal segment is mostly responsible for the acute facial palsy in the acute phase.- - - - - - - - - - ranking = 4.767720358508keywords = ganglion (Clic here for more details about this article) |
5/14. Lewy body-free nigral degeneration--a case report.A 70-year-old Japanese woman developed progressive, dopa-responsive parkinsonism consisting of akinesia, resting tremor, rigidity, and postural instability. Neuropathological examination revealed a marked loss of nigral neurons, but no lewy bodies (LBs) were observed. lewy bodies were also absent from their usual site, with the exception of a small number seen in the dorsal motor nucleus of the vagus nerve (DVN) and sympathetic ganglion. We propose that our case and several similar reported cases represent Lewy body-free nigral degeneration.- - - - - - - - - - ranking = 2.508860179254keywords = ganglion, nucleus (Clic here for more details about this article) |
6/14. A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.We report a family of Japanese origin that has five individuals from two generations affected by an illness characterized by dementia, a stooped posture and an antiflexion gait with an onset in the fourth or fifth decade of life. Two siblings had a clinical phenotype characterized by dementia and Parkinsonism with stooped posture, rigidity and bradykinesia. Neuropathological alterations in both patients included numerous 'cotton wool' plaques (CWPs), senile plaques, severe amyloid angiopathy, neurofibrillary tangles, neuronal rarefaction and gliosis. CWPs were present throughout the cerebral cortex as well as in the caudate nucleus, putamen, claustrum, thalamus, substantia innominata and colliculi. These plaques contained a small quantity of argyrophilic and tau-immunopositive neurites as well as glial fibrillary acidic protein-immunopositive elements. They were mildly fluorescent with thioflavin S and immunopositive using monoclonal antibodies recognizing amyloid beta (A beta) ending at residue 42. The main constituents of CWPs were neuropil elements and extracellular amyloid fibrils. These neuropil elements were small dendrites including spines, axon terminals containing synaptic vesicles and astrocytic processes. dendrites occasionally contained bundles of paired helical filaments. dendrites and axons often had an irregular outline and appeared as degenerating osmiophilic processes containing electron-dense mitochondria. Genetic analysis of the proband's affected sibling revealed a novel nucleotide substitution (G to A) in exon 8 of the Presenilin 1 ( PSEN1) gene. This nucleotide change results in a glycine to aspartic acid substitution at residue 217 of the PSEN1 protein. This study provides further evidence of clinical and pathological heterogeneity in dementing illnesses associated with PSEN1 mutations.- - - - - - - - - - ranking = 0.125keywords = nucleus (Clic here for more details about this article) |
7/14. Presynaptic parkinsonism in multiple system atrophy mimicking Parkinson's disease: a clinicopathological case study.We describe the clinicopathological findings in a patient aged 63 years at death who, at age 55 years, developed levodopa-responsive parkinsonism with no atypical features. A diagnosis of idiopathic Parkinson's disease (PD) was made. During the clinical course, fluctuations and dyskinesias appeared. Eight years after onset, he was successfully treated with subthalamic nucleus stimulation but died 3 weeks postoperatively from pulmonary embolus. Brain autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus coeruleus, and, to a much lesser extent, in the basis pontis, inferior olivary nuclei, and cerebellar cortex. Striatum was normal. There were numerous oligodendroglial and neuronal cytoplasmic inclusions and neuropil threads, the highest density being localized in the pons and cerebellar white matter. No lewy bodies were observed. We conclude that nigral, presynaptic parkinsonism may occur in multiple system atrophy, which even in the long run can be indistinguishable from PD. Putaminal preservation accounts for good response to both levodopa therapy and subthalamic nucleus stimulation.- - - - - - - - - - ranking = 0.25keywords = nucleus (Clic here for more details about this article) |
8/14. Lesioning the thalamus for dyskinesia.Recent advances on understanding the pallidothalamic relation lead us to perform Vim-Vo thalamotomy (combined thalamic lesion in ventralis intermedius nucleus and ventralis oralis nucleus) for cases with dyskinesia. In our recent series of thalamotomies, there are 12 cases of dyskinesia caused by various etiologies. Therefore the clinical manifestation of the involuntary movement was different in each case, including, more or less, some elements of irregular involuntary hyperkinetic movement. Stereotactic operation was performed using Leksell's apparatus aided by Surgiplan and MRI. The Vim nucleus was identified by physiological study using microelectrodes. High background activity and kinesthetic neurons are reliable indicators of Vim nucleus (but only for the lateral part). Then, selective coagulation was made by dual coagulation needles. Since the Vo nucleus is located just rostral to the Vim nucleus, the coagulation needle was turned toward the anterior part to partly cover the Vo nucleus. Thus, selective Vim-Vo thalamotomy was shown to be quite successful for the treatment of dyskinesia.- - - - - - - - - - ranking = 0.875keywords = nucleus (Clic here for more details about this article) |
9/14. Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions.OBJECTIVE: To report an autopsy case of an autosomal recessive juvenile parkinsonism patient with a homozygous exon 3 deletion in the parkin gene and alpha-synuclein-positive inclusions. methods: The representative areas of the brain were embedded in paraffin, stained with hematoxylin-eosin, Kluver-Barrera, and Gallyas-Braak stainings. Immunohistochemically, some of the specimens were used for immunostaining with the antibodies to alpha-synuclein, ubiquitin, and phosphorylated tau (AT8). Immunoreaction was visualized by the streptavidin-biotin-peroxidase complex method. RESULTS: Histologically, the lesions of the brain were limited to the dopaminergic neuron system such as the substantia nigra (SN) and locus ceruleus. Melanin-containing neurons in the pars compacta of the SN were moderately to severely depleted, accompanied by gliosis. In the locus ceruleus, neurons were mildly decreased and extraneuronal melanin pigments were seen. lewy bodies were not observed in the neuropils of the pars compacta of the SN or locus ceruleus. However, basophilic inclusion bodies were only occasionally observed in the neuropils of the pedunculopontine nucleus in the mesencephalic reticular formation. immunohistochemistry with antibodies to alpha-synuclein and ubiquitin showed alpha-synuclein- and ubiquitin-positive inclusions in the neuropils of the pedunculopontine nucleus, which had a doughnut or round shape. CONCLUSIONS: A variety of parkin gene abnormalities may produce pathologic differences in the degree and distribution of neuronal degeneration, including the absence or presence of lewy bodies. A relationship between parkin-induced parkinsonism and idiopathic parkinson disease (PD) may exist.- - - - - - - - - - ranking = 0.25keywords = nucleus (Clic here for more details about this article) |
10/14. neurosyphilis masquerading as corticobasal degeneration.We report on a patient with a syndrome resembling corticobasal ganglionic degeneration (CBD), including slight cognitive impairment, asymmetric akinesia, rigidity with myoclonus, and arm levitation, which can be one of the features of alien limb phenomenon; however, further diagnostic testing was consistent with neurosyphilis. Syphilis, "the great imitator," may also masquerade as CBD. Because neurosyphilis is treatable, it should be considered in the workup of patients with cognitive impairment and motor signs of CBD.- - - - - - - - - - ranking = 8.6439250316597keywords = basal ganglion, ganglion (Clic here for more details about this article) |
| | Next -> |