1/23. pure autonomic failure in association with human alpha-synucleinopathy.We studied an autopsy case with pure autonomic failure, using anti-alpha-synuclein antibody. Until now there has been no report about the immunohistochemical properties of alpha-synuclein in pure autonomic failure. In conventional stainings, both pre- and post-ganglionic lesions of the sympathetic and parasympathetic nervous systems were found. lewy bodies and Lewy neurites were abundant especially in the sympathetic nervous system. These inclusions were immunoreactive to anti-alpha-synuclein antibody. The intensity of alpha-synuclein immunoreactivity was stronger in the halos than in the cores of the lewy bodies. The edges of the swollen neurites had strong immunoreactivity. The substantia nigra was well preserved, and no cortical lewy bodies were seen. These findings indicate that pure autonomic failure is one of the Lewy body type alpha-synucleinopathies, such as Parkinson's disease and dementia with lewy bodies, targeting the peripheral autonomic nervous system.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
2/23. Familial mydriasis, cardiac arrhythmia, respiratory failure, muscular weakness and hypohidrosis.OBJECTIVES: To describe a family with some sort of progressive autonomic failure in one generation (2 affected of a sibship of 7 sisters). The main features were: mydriasis, cardiac arrhythmia, cardiomegaly, hypohidrosis, respiratory failure, and muscular weakness. methods: Pupillometry, evaporimetry, and isokinetic power measurements were carried out. RESULTS: The autonomic dysfunction pattern (mainly cardiac abnormalities, mydriasis) seems to differ somewhat from that of progressive autonomic failure (shy-drager syndrome). "Lewy body-like" inclusions were present, in particular in substantia nigra, but also in locus ceruleus and raphe nuclei (cell loss only in locus ceruleus). There were no oligodendroglial, cytoplasmatic inclusions, apparently a marker in multiple system atrophy. Proper lewy bodies were also present. Differences seemed to prevail vs the shy-drager syndrome. Various traits: muscular weakness pattern (e.g. preferential peroneal distribution), minor elbow contractures, and arrhythmia were reminiscent of Emery-Dreifuss muscle dystrophy (E-D). Distinguishing features included: hereditary pattern, mydriasis, and hypohidrosis. CONCLUSION: Conceivably, this disorder is close to, but still not identical with E-D.- - - - - - - - - - ranking = 0.33333333333333keywords = body (Clic here for more details about this article) |
3/23. Primary sjogren's syndrome presenting with generalized autonomic failure.A 64 year-old woman developed Raynaud's phenomenon and dry eyes/mouth. Laboratory examination revealed positive Schirmer's test, rheumatoid factor and anti-nuclear antibody, and lymphocytic sialoadenitis on salivary gland biopsy. These features strongly suggested the diagnosis of primary sjogren's syndrome. Three years later, she gradually developed generalized autonomic failure without apparent sensory neuropathy on nerve conduction study. She had systolic pressure fall of 51 mmHg on head-up tilt test, cardiovascular supersensitivity to diluted norepinephrine infusion, cardiac denervation in [123I]-MIBG scintigraphy, impaired R-R variability, decreased sweating and prolonged colonic transit time. Autoimmune autonomic ganglionopathy was mostly responsible for her autonomic failure.- - - - - - - - - - ranking = 0.33333333333333keywords = body (Clic here for more details about this article) |
4/23. The PINK1 phenotype can be indistinguishable from idiopathic parkinson disease.Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic parkinson disease.- - - - - - - - - - ranking = 35070.700807137keywords = parkinson, parkinsonism, idiopathic (Clic here for more details about this article) |
5/23. Abnormally increased iron concentration in basal ganglia in shy-drager syndrome. MR imaging and autonomic study.Report of an early case of shy-drager syndrome in a 67 year-old woman patient. Autonomic failure was diagnosed by functional evaluation as well as laboratory tests. MR imaging disclosed a prominent putamina hypodensity in T2-weighted images at high field strength due to iron increased depositing in this basal ganglia. MR imaging evidences confirm shy-drager syndrome diagnosis, and contributes for differential diagnosis of idiopathic hypotension (pure autonomic failure) in special in SDS early cases.- - - - - - - - - - ranking = 18.342130202416keywords = idiopathic (Clic here for more details about this article) |
6/23. vocal cord paralysis in the shy-drager syndrome. A cause of postoperative respiratory obstruction.A case is presented in which unexpected and persistent postoperative respiratory problems led to the finding of bilateral abductor vocal cord paralysis and confirmed the diagnosis of the shy-drager syndrome. Anaesthetists should be aware that vocal cord paralysis may be a feature of this uncommon condition, and should consider the possibility of glottic obstruction as a cause of ventilatory difficulties.- - - - - - - - - - ranking = 1555.9423709128keywords = paralysis (Clic here for more details about this article) |
7/23. snoring as a presenting feature of the shy-drager syndrome.A 67-year-old man with a progressive snoring habit is presented. Fluctuant bilateral abductor vocal cord paralysis was later recognized together with autonomic features suggesting a diagnosis of shy-drager syndrome. snoring as a presenting feature of this condition has been infrequently described. This case highlights the importance of careful assessment of snorers.- - - - - - - - - - ranking = 259.32372848546keywords = paralysis (Clic here for more details about this article) |
8/23. Pathophysiological findings in a patient with Shy-Drager and alveolar hypoventilation syndromes.This report describes the clinical, physiologic and pathologic findings in a patient with alveolar hypoventilation, acquired autonomic dysfunction, parkinsonism, and sensorimotor polyneuropathy. While there were pathologic findings in both central and peripheral nervous systems, there were no morphologic changes in the regions of the brainstem considered responsible for respiratory rhythmogenesis. A hypothesis is developed based on the assumption that the abnormalities in respiratory control which led to the patient's death are explained by abnormalities in the feedback control of respiration.- - - - - - - - - - ranking = 34978.990156125keywords = parkinson, parkinsonism (Clic here for more details about this article) |
9/23. Effect of L-threo-3,4-dihydroxyphenylserine on muscle sympathetic nerve activities in shy-drager syndrome.We observed changes in postganglionic efferent discharges of muscle sympathetic nerve (muscle sympathetic activity, MSA) microneurographically before and after the oral administration of L-threo-3,4-dihydroxyphenylserine (L-threo-DOPS), a precursor of norepinephrine, in a patient with shy-drager syndrome and irregular fluctuations of blood pressure. Before drug administration, MSA was only rarely observed with the patient in the supine position. There was a slight increase in MSA during head-up tilting to 40 degrees, and orthostatic hypotension (OH) occurred just after the body was tilted head upward to 40 degrees. MSA became prominent 30 minutes after the oral administration of 200 mg of L-threo-DOPS while the patient was in a 40 degree head-up position, and the OH was improved. The MSA discharge rate decreased and OH reappeared 3 hours after oral administration, when the plasma concentration of norepinephrine was at its highest level. We suggest that the OH improved mainly because of the increase in MSA due to L-threo-DOPS, and that the drug may activate sympathetic outflow at a site proximal to the sympathetic ganglion.- - - - - - - - - - ranking = 0.33333333333333keywords = body (Clic here for more details about this article) |
10/23. vocal cord paralysis as a presenting sign in the shy-drager syndrome.A 70-year-old patient with bilateral vocal cord paralysis, accompanied by inspiratory stridor and increased snoring, is presented. Respiratory dysfunction, deteriorating over 18 months, necessitated permanent tracheostomy. Only two and a half years after the onset of symptoms the patient developed extrapyramidal signs combined with severe autonomic failure, suggesting a diagnosis of shy-drager syndrome. Vocal cord palsy preceding any other neurological or autonomic manifestations of that syndrome has been infrequently described. This diagnosis should be considered in cases of vocal cord palsy of undetermined etiology, especially when associated with increased snoring or episodes of sleep apnea.- - - - - - - - - - ranking = 1296.6186424273keywords = paralysis (Clic here for more details about this article) |
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