1/57. 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 = 1keywords = nucleus (Clic here for more details about this article) |
2/57. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
3/57. Bilateral subthalamic nucleus stimulation in a parkinsonian patient with preoperative deficits in speech and cognition: persistent improvement in mobility but increased dependency: a case study.We report a patient with advanced Parkinson's disease, including severe and frequent off periods with freezing of gait, moderate dysphonia, and some cognitive impairment, who underwent bilateral subthalamic nucleus (STN) stimulation. The patient was followed for 1 year after surgery, showing persistent good mobility without off periods and without freezing, which reverted completely when stopping the stimulation. There was deterioration of cognition as well as increased aphonia and drooling, all of which remained when the stimulation was turned off. The striking improvement in motor symptoms following STN stimulation was not paralleled by improvement in disability, probably as a result of a cognitive decline, suggesting a diagnosis of Parkinson's disease with dementia. We conclude that chronic STN stimulation is efficient in alleviating akinetic motor symptoms including gait freezing; this surgery should be offered before patients start to exhibit speech or cognitive disturbances.- - - - - - - - - - ranking = 5keywords = nucleus (Clic here for more details about this article) |
4/57. 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 = 8keywords = nucleus (Clic here for more details about this article) |
5/57. Supplementary administration of artificial bright light and melatonin as potent treatment for disorganized circadian rest-activity and dysfunctional autonomic and neuroendocrine systems in institutionalized demented elderly persons.Increased daytime napping, early morning awakening, frequent nocturnal sleep interruptions, and lowered amplitude and phase advance of the circadian sleep-wake rhythm are characteristic features of sleep-waking and chronobiological changes associated with aging. Especially in elderly patients with dementia, severely fragmented sleep-waking patterns are observed frequently and are associated with disorganized circadian rhythm of various physiological functions. Functional and/or organic deterioration of the suprachiasmatic nucleus (SCN), decreased exposure to time cues such as insufficient social interaction and reduced environmental light, lowered sensitivity of sensory organs to time cues, and reduced ability of peripheral effector organs to express circadian rhythms may cause these chronobiological changes. In many cases of dementia, the usual treatments for insomnia do not work well, and the development of an effective therapy is an important concern for health care practitioner and researchers. Recent therapeutical trials of supplementary administration of artificial bright light and the pineal hormone melatonin, a potent synchronizer for mammalian circadian rhythm, have indicated that these treatments are useful tools for demented elderly insomniacs. Both bright light and melatonin simultaneously ameliorate disorganized thermoregulatory and neuroendocrine systems associated with disrupted sleep-waking times, suggesting a new, potent therapeutic means for insomnia in the demented elderly. Future studies should address the most effective therapeutic design and the most suitable types of symptoms for treatment and investigate the use of these tools in preventive applications in persons in early stages of dementia.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
6/57. Dementia with lewy bodies: a pure case.A pure case of autopsy-confirmed dementia with lewy bodies (DLB) is described. The patient presented with distinctive verbal fluency deficits in the context of mild language impairment, intact recognition memory, and impaired paragraph recall. neuroimaging (CT and SPECT) showed progressive medial temporal lobe atrophy. Neuropathology revealed lewy bodies, degeneration in the substantia nigra, nucleus basalis of Meynert (Nakano & Hirano, 1984), and locus ceruleus, but no pathology characteristic of Alzheimer's disease. It is in this sense that the case is "pure" DLB. Early neuropsychological diagnosis of DLB is essential (salmon et al., 1996) given the potentially fatal hazard of neuroleptics (McKeith et al., 1992) and the difficulties associated with clinical neurological diagnoses (Litvan et al., 1998).- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
7/57. Clinical aspects of argyrophilic grain disease.Argyrophilic grain disease (AGD) is a dementia in the senium characterized by limbic involvement in the form of massive occurrence of argyrophilic and tau-positive grains in the neuropil. The main affected areas in the limbic system are the hippocampal as well as entorhinal regions, and subsequently the amygdaloid nucleus, where mild to moderate degrees of tissue degeneration are also often observed. Retrospective evaluation of 4 patients with AGD revealed common clinical features which consist of memory disturbance, relatively preserved cognitive function and personality change characterized by emotional disorder with aggression or ill temper. Such clinical characteristics are consistent with limbic involvement, and therefore AGD is thought to be a type of limbic dementia. The lack of kluver-bucy syndrome, which constitutes the basic part of limbic dementia, may indicate chronic, progressive and mild degeneration in the limbic areas in this disease.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
8/57. A case of frontotemporal dementia and parkinsonism of early onset with progressive supranuclear palsy-like features.We report a patient with frontotemporal degeneration and parkinsonism with mental retardation. The patient was a 54-year-old man who had parkinsonism that resembled progressive supranuclear palsy, frontotemporal degeneration and myoclonus. His family included many affected members. Neuropathologically, there was degeneration of the frontal and temporal cortices, the basal ganglia, the brainstem and the cerebellum. Microscopically, neuronal loss was severe in the frontal and temporal cortex, the globus pallidus, substantia nigra, red nucleus and dentate nucleus. Fibrillary changes were found in neurons and glia that were immunostained for tau. Although we could not define the genetic abnormalities, we thought that this case might have involved frontotemporal dementia and parkinsonism linked to chromosome 17.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
9/57. frontal lobe dementia with novel tauopathy: sporadic multiple system tauopathy with dementia.We present a novel tauopathy in a patient with a 10-yr history of progressive frontal lobe dementia and a negative family history. autopsy revealed mild atrophy of frontal and parietal lobes and severe atrophy of the temporal lobes. There were occasional filamentous tau-positive inclusions, but more interesting were numerous distinctive globular neuronal and glial tau-positive inclusions in both gray and white matter of the neocortex. Affected subcortical regions included substantia nigra, globus pallidus, subthalamic nucleus, and cerebellar dentate nucleus, in a distribution similar to progressive supranuclear palsy (PSP), but without significant accompanying neuronal loss or gliosis. Predominantly straight filaments were detected by electron microscopy (EM), while other inclusions were similar to fingerprint bodies. No twisted ribbons were detected. Immuno-EM studies revealed that only the filamentous inclusions were composed of tau. immunoblotting of sarkosyl-insoluble tau revealed 2 major bands of 64 and 68 kDa. Blotting analysis after dephosphorylation revealed predominantly 4-repeat tau. sequence analysis of tau revealed that there were no mutations in either exons 9-13 or the adjacent intronic sequences. The unique cortical tau pathology in this case of sporadic multiple system tauopathy with dementia adds a new pathologic profile to the spectrum of tauopathies.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
10/57. Creutzfeldt-Jakob disease (CJD) in a case of suspected chronic heavy metal poisoning.We describe a patient who died of suspected heavy metal poisoning after a nine-month history of rapidly worsening dementia. autopsy at a forensic-pathological institute established the postmortem diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) based on demonstration of the proteinase-resistant prion protein (PrPsSc) in Western-Blot on native brain tissue. Microscopic examination of the macroscopically largely inconspicuous brain revealed marked spongiform changes in the gray matter--mainly affecting the cerebral cortex, nucleus caudatus, and putamen--with confluent vacuoles. Patchy or perivacuolar deposits of PrPSc were found as well as granular PrPsc deposits. The cerebellum contained focal PrPsc deposits. There was an astrogliosis in the white matter and a proliferation of microglia in the gray matter with a simultaneous clear reduction in neuronal elements. The differential diagnosis is discussed, as is the potential risk to those performing autopsy on forensic cases with a clinical picture of rapidly progressing dementia, especially in cases where a prion disease is not initially suspected.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
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