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1/49. 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.
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2/49. 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.
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3/49. Progressive supranuclear palsy on guam.

    This is the first report demonstrating that progressive supranuclear palsy (PSP) exists on guam. This 75-year-old Guamanian Chamorro patient with slight dementia and rigidity with restriction of ocular up gaze was diagnosed as parkinsonism-dementia complex (PDC) of guam clinically. However, neurofibrillary tangles (NFTs) were scarcely seen in the cerebral cortices and hippocampus, but many NFTs, composed of 15-17 nm straight tubules, were detected in the subthalamic nucleus and brain stem. A large number of tuft-shaped astrocytes were observed in the putamen and motor cortex, and numerous argyrophilic grains were seen in the CA1 and subiculum. These pathological findings are different from those of PDC and consistent with PSP. The present case indicates that PSP and PDC clinically resemble each other, and that precise neuropathological examination is indispensable for the final diagnosis of the patient with parkinsonism, dementia and disturbance of vertical external ocular movement.
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4/49. A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy.

    We report a Japanese case of sporadic Creutzfeldt-Jakob disease (CJD) presenting as progressive supranuclear palsy. For 2 years after onset, neurological deficits had slowly progressed but neither myoclonus nor periodic synchronous discharge was observed. diffusion-weighted image (DWI) showed unique high signal lesions in the bilateral frontal cortex, left parietooccipital and occipital cortices, but there was nearly no change eight months later. Needle biopsy revealed deposition of prion protein of a patchy/perivacuolar type with spongiform degeneration. Thus, the phenotype of sporadic CJD seems variable and DWI should be performed, even in atypical cases lacking the characteristics of CJD.
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5/49. Progressive supranuclear palsy presenting with primary progressive aphasia--clinicopathological report of an autopsy case.

    We report a Japanese autopsy case of progressive supranuclear palsy (PSP). The male patient was 74 years old at the time of death. At age 64, he developed non-fluent aphasia that progressed slowly over 8 years, eventually associated with behavioral abnormality, postural instability, and dysphagia at 2 years prior to his death. magnetic resonance imaging of the brain at age 73 demonstrated marked atrophy of the frontal lobes, particularly on the left side. Neuropathological examination revealed the typical pathology of PSP: loss of neurons, gliosis, occurrence of neurofibrillary tangles, oligodendroglial coiled bodies, and tuft-shaped astrocytes in the frontal cortex, associated with argyrophilic threads in the underlying white matter, in the basal ganglia, including the thalamus, globus pallidus, and subthalamic nucleus, and in the brainstem nuclei, including the substantia nigra, pontine nucleus, and inferior olivary nucleus. No astrocytic plaques or ballooned neurons were observed. Protein analysis revealed accumulation of hyperphosphorylated tau of 68 and 64 kDa consisting of the four repeat tau isoforms. We conclude that the present case represented PSP with an 8-year history of primary progressive aphasia (PPA). Although focal cortical symptoms in PSP are rare or absent, we should keep in mind the possibility of atypical PSP in which cortical pathology is predominant, particularly in the frontal lobe, and could result in PPA.
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6/49. Clinical and pathological study of two patients with progressive supranuclear palsy and Alzheimer's changes. Antigenic determinants that distinguish cortical and subcortical neurofibrillary tangles.

    Two cases with classical clinical manifestations of progressive supranuclear palsy (PSP) showed severe progressive dementia as an additional clinical feature. Neuropathological study demonstrated typical features of PSP in the brainstem. Additionally, histological criteria of Alzheimer's disease (AD) were observed. A topographic and immunohistological study (with neurofilament subunit and Tau and ubiquitin antibodies) of the distribution of neurofibrillary tangles (NFTs) was performed in order to compare the characteristics of NFTs from cortex and brainstem. NFTs from cortex were positive with all antibodies used and were predominantly distributed in cortical layers III and V and affected medium size neurons. Brainstem NFTs were positive only for neurofilament subunits and Tau. Cortical and brainstem NFTs showed immunohistological differences. Cortical NFTs in our two cases had a similar distribution as in control AD cases. On the basis of our observations we believe (1) that cortical tangles in our PSP cases are related to Alzheimer's disease and (2) that the cortical NFTs of PSP and AD are morphologically and immunohistologically distinct. Mechanisms concerned with the production of cortical and brainstem NFTs in PSP and AD are discussed.
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7/49. Presenile dementia with progressive supranuclear palsy tangles and Pick bodies: an unusual degenerative disorder involving the cerebral cortex, cerebral nuclei, and brain stem nuclei.

    Degeneration of heterogeneous systems in the central nervous system, with widespread distribution of argyrophilic neuronal fibrillary inclusions, was found in a patient with presenile dementia. atrophy was circumscribed in the frontal and temporal lobes. Neuronal loss was severe in the basal ganglia, subthalamic nucleus, and substantia nigra. Immunocytochemical study using anti-phosphorylated tau and anti-ubiquitin antibodies in conjunction with ultrastructural observations revealed two types of inclusions: neurofibrillary tangles (NFTs) of progressive supranuclear palsy (PSP) in the Edinger-Westphal nucleus, locus coeruleus, cerebellar dentate nucleus, inferior olivary nucleus, and posterior horn of the spinal cord; and Pick bodies (PBs) in the atrophied cerebral cortex and red nucleus. PSP-type NFTs and PBs have been demonstrated in a single case for the first time. Despite their pathognomonic significance in certain disorders, we suggest that these inclusions may reflect a form of cytoskeletal disorganization, which is not entirely restricted to a single disease entity.
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8/49. dopamine D1 and D2 receptors in progressive supranuclear palsy: an autoradiographic study.

    dopamine D1 and D2 receptors were studied in brain tissue sections from a typical patient with progressive supranuclear palsy and in 7 age-matched brains. The density of D1 receptors in the caudate-putamen and frontal cortex of the patient was within control limits. By contrast, the density of nigral D1 receptors and striatal D2 receptors was dramatically reduced in the patient as compared to the control brains. This work shows again that the loss of striatal D2 receptors is the most plausible explanation for the poor response to dopaminergic drugs in patients with progressive supranuclear palsy. While the loss of nigral D1 receptors can be explained by the loss of nigral neurons, it seems that neurons bearing striatal D1 receptors are spared in progressive supranuclear palsy. The clinical effects of selective D1 agonists are worth testing in this devastating disorder.
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9/49. Progressive supranuclear palsy with widespread cerebral lesions.

    A 51-year-old woman with no history of any familial neurological diseases initially presented with numbness in her extremities, slowing of movements, comprehension deficit, memory disturbance, dyscalculia, muscle rigidity, hyperreflexia, Parkinsonian gait, increasing disorientation, left-right disturbance, finger agnosia, alexia, acalculia, apraxia, aspontaneity, euphoria, gait disturbance, aphasia, echolalia, and in the terminal stage, mutism, contracture of lower extremities and cachexia. She died of bronchopneumonia at the age of 55. The brain showed widespread cerebral lesions, consisting of nerve cell loss and neurofibrillary tangles in the frontal, parietal and occipital cortex, demyelination and gliosis in the frontal, parietal and occipital subcortical white matter in addition to the typical pathological findings of progressive supranuclear palsy (PSP): severe neuronal loss with gliosis and neurofibrillary tangles (NFTs) in the subthalamic nucleus, globus pallidus and substantia nigra. In conclusion, we present a case of PSP with unusual clinical features (extrapyramidal signs, frontal and parietal lobe syndromes without ophthalmoplegia) and neuropathologically widespread cerebral lesions in addition to the typical pathological findings of PSP. The differential diagnosis of PSP and Alzheimer's disease and other degenerative disorders is discussed.
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10/49. Diffuse lewy body disease presenting with supranuclear gaze palsy, parkinsonism, and dementia: a case report.

    A 67-year-old man with a family history of parkinsonism had visual complaints due to difficulty in convergence, which was followed 2 years later by development of bradykinesia and rigidity. The diagnosis of Steele-Richardson-Olszewski syndrome was made on the basis of a supranuclear gaze palsy, bradykinesia, rigidity, and poor response to levodopa. However, subsequent neuropathological examination revealed diffuse lewy body disease with no evidence of neurofibrillary tangles involving either subcortical or brain stem structures.
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