1/71. Tau pathology in a family with dementia and a P301L mutation in tau.Familial forms of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) have recently been associated with coding region and intronic mutations in the tau gene. Here we report our findings on 2 affected siblings from a family with early-onset dementia, characterized by extensive tau pathology and a Pro to Leu mutation at codon 301 of tau. The proband, a 55-year-old woman, and her 63-year-old brother died after a progressive dementing illness clinically diagnosed as alzheimer disease. Their mother, 2 sisters, maternal aunt and uncle, and several cousins were also affected. autopsy in both cases revealed frontotemporal atrophy and degeneration of basal ganglia and substantia nigra. Sequencing of exon 10 of the tau gene revealed a C to T transition at codon 301, resulting in a Pro to Leu substitution. Widespread neuronal and glial inclusions, neuropil threads, and astrocytic plaques similar to those seen in corticobasal degeneration were labeled with a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes spanning the entire tau sequence. Isolated tau filaments had the morphology of narrow twisted ribbons. Sarkosyl-insoluble tau exhibited 2 major bands of 64 and 68 kDa and a minor 72 kDa band, similar to the pattern seen in a familial tauopathy associated with an intronic tau mutation. These pathological tau bands predominantly contained the subset of tau isoforms with 4 microtubule-binding repeats selectively affected by the P301L missense mutation. Our findings emphasize the phenotypic and genetic heterogeneity of tauopathies and highlight intriguing links between FTDP-17 and other neurodegenerative diseases.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
2/71. A large Japanese family with machado-joseph disease: clinical and genetic analysis.We report clinical and genetic studies on a large Japanese family with machado-joseph disease (MJD), in which various different clinical phenotypes were seen in the same family, i.e., cerebellar ataxia type, severe amyotrophy type, and young-onset parkinsonism type. In addition, patients with very mild symptoms (formes frustes) were encountered. The expansion of the CAG repeat at the MJD locus ranged from 64 to 71 in 7 affected and 4 presymptomatic individuals. In our family, no clear inverse correlation was noted between the length of CAG-expansion and the age of onset, or the clinical phenotypes. Hyporeflexia was a common manifestation seen in 5 patients. It has been reported that the presence of peripheral neuropathy in MJD is associated with smaller increase in the CAG repeats; findings in our family conform with this observation.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
3/71. Fat augmentation for glottic insufficiency.OBJECTIVES: Fat lipoinjection augmentation for glottic insufficiency has been used in patients with vocal fold paralysis. Relatively little information is available on the effectiveness of fat injection in patients with vocal atrophy, intubation trauma, and post-hemilaryngectomy defects. STUDY DESIGN: This paper retrospectively compares the efficiency of fat injection in patients with vocal cord paralysis (n = 9), vocal scar (n = 13), and vocal atrophy (n = 11). methods: The perceptual acoustic, phonatory function, and videolaryngostroboscopic data were evaluated before and after fat augmentation in 33 patients. RESULTS: Mean follow-up time was 9.7 months. Nineteen patients had excellent results. Three patients had no change. Five patients had late failure. Six patients were lost to follow-up. Phonatory function showed significant improvement in jitter, shimmer, noise-to-harmonic ratio, maximal phonation time, grade, asthenia, and breathiness (P < .05). Videolaryngostroboscopic rating showed significant improvement in right linearity of the vocal fold edge, amplitude of vocal fold vibration, excursion of the mucosal wave, vibratory behavior, and phase symmetry (P < .05). Anterior defects did better than posterior defects. Small vocal fold defects did better than large defects. CONCLUSIONS: Fat injection is a good autogenous implant and may be considered as an option in management of patients with vocal fold scar, defect, or atrophy. Reabsorption of fat is a problem, but the procedure may be repeated.- - - - - - - - - - ranking = 0.0022343490607098keywords = paralysis (Clic here for more details about this article) |
4/71. Late sequelae of radiation therapy in cancer of the head and neck with particular reference to the nasopharynx.Sequlae of radiation therapy may be late in occurring and varied in their manifestations. Although some are untreatable and progressive, the risk of development of some other sequelae can be minimized by careful application of radiotherapy or by ancillary measures, such as dental decay prophylaxis. Some of the serious sequelae secondary to radiation therapy of the nasopharynx have been summarized. These include radiation myelitis, paralysis of the cranial nerves, stricture of the pharynx, radiation-induced cancer, and necrosis with fatal hemorrhage.- - - - - - - - - - ranking = 0.0011171745303549keywords = paralysis (Clic here for more details about this article) |
5/71. Asymmetrical temporal lobe atrophy with massive neuronal inclusions in multiple system atrophy.This report concerns a rare association of asymmetrical temporal lobe atrophy with multiple system atrophy (MSA). A 53-year-old Japanese woman developed cerebellar ataxia and parkinsonism and was diagnosed as olivopontocerebellar atrophy (OPCA). This patient showed forgetfulness and subsequent disorientation even in the early stage of the disease. She fell into a decorticate state at the age of 64, and died a year later. The autopsy showed MSA with asymmetrical atrophy of temporal lobes, intraneuronal globular inclusions mostly confined to the hippocampus, amygdaloid nucleus, and most abundant in the granule cells in the dentate fascia. These inclusions were intensely argyrophilic and expressed marked immunoreactivity to ubiquitin, but not to neurofilament (NF), tau and paired helical filaments (PHF). Ultrastructurally, they were composed of scattered short filamentous structures of 15 to 30 nm in diameter, ribosome-like granules, mitochondria and lipofuscin. The lack of immunoreactivity against tau, NF and PHF suggests that the inclusions are distinct from Pick bodies. To our knowledge, MSA in association with asymmetrical temporal lobe atrophy with the present neuronal inclusions has not been reported. This case is distinct from MSA combined with atypical Pick's disease in the distribution and immunohistochemical properties of neuronal inclusions, and may present a new variant of MSA since the neuronal inclusions are similar, in many respects, to those of neuronal inclusions reported in MSA. Globular inclusions are also discussed in variants of Pick's disease, amyotrophic lateral sclerosis and Alzheimer's disease.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
6/71. adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. brain MRI showed vermian and hemispheric cerebellar atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible.- - - - - - - - - - ranking = 0.0055858726517745keywords = paralysis (Clic here for more details about this article) |
7/71. intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger rna and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger rna may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.- - - - - - - - - - ranking = 4keywords = parkinsonism (Clic here for more details about this article) |
8/71. Corticobasal syndrome with tau pathology.Six cases with a clinical corticobasal syndrome (progressive asymmetric apraxia and parkinsonism unresponsive to levodopa) and tau pathology were selected from 97 brain donors with parkinsonism. Postmortem volumetric measures of regional brain atrophy (compared with age/sex-matched controls) were correlated with clinical features and the degree of underlying cortical and subcortical histopathology. At death, no significant asymmetry of pathology was detected. All cases had prominent bilateral atrophy of the precentral gyrus (reduced by 22-54%) with other cortical regions variably affected. Subcortical atrophy was less severe and variable. Two cases demonstrated widespread atrophy of basal ganglia structures (44-60% atrophy of the internal globus pallidus) and substantial subcortical pathology consistent with a diagnosis of progressive supranuclear palsy (PSP). The remaining four cases had typical pathology of corticobasal degeneration. In all cases, neuronal loss and gliosis corresponded with subcortical atrophy, while the density of cortical swollen neurons correlated with cortical volume loss. Atrophy of the internal globus pallidus was associated with postural instability, while widespread basal ganglia histopathology was found in cases with gaze palsy. This study confirms the involvement of the precentral gyrus in the corticobasal syndrome and highlights the variable underlying pathology in these patients.- - - - - - - - - - ranking = 2keywords = parkinsonism (Clic here for more details about this article) |
9/71. An atypical case of sporadic Creutzfeldt-Jakob disease with Parkinson's disease.We report here an autopsy case of a 64-year-old female with slowly progressive dementia and parkinsonism in a 4-year-long clinical course. Post-mortem examination revealed a severely atrophic brain with spongiform degeneration, neuronal loss and gliosis in the gray matter. Many prion protein plaque deposits were present in the occipital lobe, amygdala and cerebellum. Additionally, lewy bodies were observed in the brainstem. Prion protein gene analysis of the patient revealed polymorphism at the codon-129 valine heterozygote. This genotype is known to sometimes accompany a missense mutation of the gene in uncommon hereditary prion diseases, but no mutation was found in the open reading frame. Thus, it might be suggested that this case showed simultaneously the features of both sporadic Creutzfeldt-Jakob disease (CJD) with codon-129 valine and Parkinson's disease. However, the predisposing factors for contracting both diseases simultaneously remain to be determined, because the incidence of Parkinson's disease accompanied by CJD is very low.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
10/71. Loss of postural reflexes in long-term occupational solvent exposure.inhalation of organic solvents has long been known to damage various nervous systems, including cerebellum, brainstem, and pyramidal tract. However, little is known about the damage of the dopaminergic system. We report two patients with occupational long-term solvent exposure who developed postural instability without other features of parkinsonism. The concentration of HVA in CSF was decreased and the retropulsion was dramatically improved after the administration of levodopa. These findings indicate that the nigrostriatal dopaminergic neurons were disturbed by chronic solvent exposure, resulting in the loss of postural reflexes.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
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