Ear dyskinesia.
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Biomedical subjects
Publications and source records attributed to C Schupp.
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Five cases of parkinsonism with athymhormia observed in a single family are reported. Death caused by central respiratory disorders occurred after 6 to 8 years of progressive course. In 2 cases with autopsy, there was a severe neuronal loss predominant in the substantia nigra. Other brain stem nuclei (locus coeruleus, dorsal motor nucleus of the vagus nerve, nucleus of the tractus solitarius) were involved, as well as the striatum, pallidum and frontal cortex. No Lewy body was seen. In the surviving patient, positron emission tomography demonstrated, 4 years after the onset, a bilateral frontal hypometabolism. This disease is a rare variety of familial parkinsonism of dominant inheritance, already reported in 2 Canadian families by Perry et al. (1975) and Purdy et al. (1978) and in a family of West Virginia by Roy et al. (1988). The respiratory disorders can be explained by the involvement of the dorsal medullary nuclei. The peculiar neuropsychological disorder and motor slowing are best accounted for by the functional impairment of both motor and limbic striato-pallido-thalamo-frontal loops.
A 66 year-old woman presented with severe memory disorders followed several months later with tremor of Parkinsonian type of the right upper limb totally relieved by treatment with levodopa-benserazide. Four years later she was admitted with memory disturbances, temporospatial disorientation, constructional and ideatory apraxia, dressing apraxia and language difficulties. Eight years later she had become bed-ridden, with deviation of head and eyes towards the left, hypertonus tremor and stereotyped movements. Neuropathologic examination showed neuronal loss in substantia nigra and left locus ceruleus, dorsal nucleus of the pneumogastric nerve and Meynert's basal nuclei on both sides. Neurofibrillary tangles affected the peri-aqueductal grey matter and Lewy's bodies were observed in the substantia nigra. Neurofibrillary tangles and granulovacuolar degeneration together with senile plaques were numerous in the hippocampus, but senile plaques and neurofibrillary tangles were rare in the remainder of the cortex. Combined Alzheimer's disease and Parkinson's disease could be due to simple coincidence, one of the diseases possibly predisposing to the appearance of the other.
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A 33-year-old woman had developed cortical deafness with profound initial deafness lasting for eleven months after pneumococcal meningitis ten years previously. CT scan demonstrated bilateral temporal lobe lesions, predominantly on the left side where it extended into the adjacent parietal and frontal lobes. Audiometry suggested integrity of the internal ear and brain stem. Early auditory evoked potentials were present, while potentials of moderate latency and delayed potentials were abolished. Neuropsychological investigations demonstrated total absence of spoken language, contrasting with conservation of written language, though with agrammatism and an impossibility of identifying non-verbal noises, spoken language, and music. The patient could not identify rhythms, pitch, melodies or the different types of music. The musical quality of sound stimuli and musical pleasure were, however spared as shown by recognition of tape recorded sound stimuli with written denomination and designation of images in multiple choice tests. The relations between auditory agnosia, "pure" verbal deafness and cortical deafness are discussed. Reported cases are reviewed and an attempt is made to demonstrate the existence of several levels in the integration of musical stimuli, the most elementary of which could be the perception of the musical quality of sounds, as was the case in the present patient.
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