Cases reported "Tauopathies"

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1/6. Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia.

    We report an autopsy case of a 77-year-old Japanese man with a 7-year history of progressive unilateral left limb dystonia and arm levitation. brain computed tomography showed fronto-temporal atrophy. The patient was diagnosed as having corticobasal degeneration. Histopathologically, the cerebral cortices, especially of the parasagittal region, and subcortical nuclei revealed numerous Gallyas/tau-positive cytoplasmic inclusions characteristic of progressive supranuclear palsy (PSP). Grumose degeneration was evident in the dentate nucleus. Astrocytic plaques were not present, but a small number of ballooned neurons were found in the fronto-temporal regions. The involvement by the PSP lesions was quite asymmetric in the affected areas, including the frontal cortices, basal ganglia, red nuclei, and inferior olivary nuclei, being more prominent on the side contralateral to the side of limb dystonia. The apparent unilateral dominance of PSP pathology may be relevant to the asymmetric clinical presentation of this patient.
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ranking = 1
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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2/6. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

    MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. A point mutation (R5L) was identified in a single progressive supranuclear palsy subject that was not in the other progressive supranuclear palsy subjects or in 96 controls. Functionally, this mutation alters the ability of tau to promote microtubule assembly. Analysis of soluble tau from different brain regions indicates that the mutation does not affect the ratio of tau isoforms synthesized. Aggregated insoluble tau from subcortical regions was predominantly four-repeat tau with no or one amino terminal insert (0N4R and 1N4R). Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain-of-function mechanism.
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ranking = 3.5420721092834
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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3/6. Tau phosphorylation and kinase activation in familial tauopathy linked to deln296 mutation.

    Tau phosphorylation has been examined by immunohistochemistry in the brain of a patient affected with familial tauopathy with progressive supranuclear palsy-like phenotype linked to the delN296 mutation in the tau gene. Phospho-specific tau antibodies Thr181, Ser202, Ser214, Ser396 and Ser422, and antibodies to glycogen synthase kinase-3alpha/beta (GSK-3alpha/beta) and to phosphorylated (P) mitogen-activated protein kinase/extracellular signal-regulated kinases (MAPK/ERK), stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK), p38 kinase (p38) and GSK-3betaSer9 have been used to gain understanding of the identification of phosphorylation sites, as well as of the specific kinases that regulate tau phosphorylation at those specific sites, in a familial tauopathy. The neuropathological examination disclosed atrophy of the right precentral gyrus and the brainstem. Neurone loss and gliosis were observed in the substantia nigra, several nuclei of the brainstem and diencephalon. Hyper-phosphorylated tau accumulated in neurones with neurofibrillary tangles and in neurones with pretangles in the substantia nigra, locus ceruleus, peri-aqueductal grey matter, reticular formation, motor nuclei of the brainstem, and thalamus, amygdala and hippocampus. tau-immunoreactive astrocytes and, particularly, oligodendrocytes with coiled bodies were widespread in the brainstem, diencephalons, cerebral white matter and cerebral cortex. Increased expression of MAPK/ERK-P, SAPK/JNK-P, p-38-P and GSK-3beta-P was observed in select subpopulations of neurones with neurofibrillary tangles and in neurones with pretangles. MAPK/ERK-P, SAPK/JNK-P, p38-P and GSK-3beta-P were also expressed in tau-containing astrocytes and in oligodendrocytes with coiled bodies. These findings show, for the first time, activation of precise kinases that regulate tau phosphorylation at specific sites in familial tauopathy.
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ranking = 0.44275901366042
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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4/6. 4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy.

    We report a 67-year-old man with 4-repeat (4R) tauopathy sharing both features of corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP). Although CBD and PSP have a common pathological feature that 4R tau accumulates in neurons and glia, recent pathological studies have confirmed differences between the two disorders. Clinical features of the present case were asymmetrical apraxia, parkinsonism, memory disturbance, disorientation and left limb myoclonus with a 5-year history. Pathological features were the widespread occurrence of 4R tau-positive structures including pre-tangles, neurofibrillary tangles, astrocytic plaques, tufted astrocytes, coiled bodies and argyrophilic threads. Biochemically, immunoblotting of insoluble tau demonstrated the low molecular fragments of 37 kDa and 33 kDa observed in typical CBD and PSP, respectively, in addition to the presence of 4R tau isoforms. The present case shared tau-related pathological and biochemical features of CBD and PSP. These findings support that CBD and PSP are closely associated disorders having a pathogenesis common to 4R tauopathy.
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ranking = 2.2137950683021
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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5/6. Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsy.

    We document a new oculomotor phenomenon in a patient with pathologically proven progressive supranuclear gaze palsy (PSP), namely that vertical gaze excursion improves with larger pursuit targets. We used computerised video-oculography during vertical smooth pursuit eye movements (SPEM) of circular targets of diameter 0.16 degrees and 16 degrees, sinusoidally oscillating at 0.08 Hz (peak-to-peak amplitude 49 degrees). Increasing target size improved vertical gaze excursion from 10 degrees to 25 degrees. There was no concomitant increase in slow phase eye velocity. The findings could be explained by a potentiation of the position control mechanism of pursuit by target size due to increased activation of brainstem pursuit-optokinetic pathways and to higher order attentional mechanisms. This observation may be useful in the clinical assessment of PSP patients with severe neck rigidity in whom the doll's head-eye manoeuvre cannot be performed by comparing the degree of vertical gaze palsy during smooth pursuit testing between at least two differently sized targets and observing whether there is a larger excursion in response to a large target such as a newspaper.
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ranking = 2.1763789235647
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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6/6. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.

    A 30-year-old white man presented with a sporadic form of gradually progressive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mild cognitive impairment, loss of postural reflexes, and falls. dna analysis revealed H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord.
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ranking = 0.54459054975047
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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