[The "locked-in" syndrome with loss of consciousness].
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Biomedical subjects
Publications and source records attributed to J Kovanen.
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Histocompatibility antigens were defined in 25 members of a Finnish family in which Creutzfeldt-Jakob disease (CJD) was diagnosed clinically in 4 cases and neuropathologically in 3 cases; 3 further cases had a history of presenile dementia. 2 HLA haplotypes were defined in 3 patients and deduced in a further 3 cases; only one haplotype could be deduced in 2 patients. CJD was not linked with a single haplotype, but at least 7 out of 8 patients with this disease apparently shared the HLA antigens A28 and B8.
A Finnish family is described with 9 cases of presenile dementia in 3 generations. The mean age at onset was 52 years (range 46--62 years). Progressive dementia, upper motor neuron signs, muscular rigidity, and twitching, irregular tremors were consistent features in the 6 clinically investigated patients and were associated with spongiform change in the cerebral cortex of one autopsy and two brain biopsy cases. The EEG showed progressive slowing without the occurrence of repetitive high-voltage complexes at any stage of the disease. The average duration of the disease (21 months, range 11--36 months) was longer than in the sporadic form of CJD. The occurrence of CJD within this family follows a pattern consistent with an autosomal dominant mode of inheritance, suggesting the possibility of vertical transmission of the presumptive causative agent for example by genomic integration or transplacental passage. However, the occurrence of the disease only through the paternal line of relationships and the presence of a discordant twin pair argue strongly against transplacental passage or transmission via mother's milk. Simple contact infection also seems unlikely, as conjugal cases were not found among the 7 married patients. The interval between the death of the last affected member in generation IV and the time of onset of the disease in the first affected member of generation V was 10 years. Thus setting a minimum incubation period if case-to-case transmission were occurring. To evaluate the role of a genetically determined susceptibility to infection studies on the HLA antigens and other genetic markers are in progress.
Ten patients with confirmed tuberculous meningitis were seen at Meilahti Hospital, University of Helsinki, in 1966--1977. Six of the patients had a positive CSF culture for M. tuberculosis, and a positive CSF smear for acid-fast bacilli was found in one case. On admission, seven patients had an altered state of consciousness, five complained of headache, and nuchal rigidity was noted in two. Five patients recovered completely, three had persistent late sequelae, and two of the patients died. The most important fact influencing the prognosis was an early institution of adequate antituberculous chemotherapy.
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Beta-2-microglobulin was measured in specimens of cerebrospinal fluid (CSF) collected from 167 patients classified in 14 diagnostic categories at an outpatient Department of Neurology. In the control group of 29 subjects without any obvious disease of the nervous system, the concentration of beta-2-microglobulin was 1.15 +/- 0.37 mg/1 (M +/- s.d.). The concentration was almost significantly elevated in the groups with fresh brain infarct, central nervous system infection, and polyneuropathy. The serum concentrations of beta-2-microglobulin did not differ significantly among these diagnostic categories. The mean ratio between CSF and serum beta-2-microglobulin was 0.79 +/- 0.32 in the control group and more than 1.0 in the patients with brain infarcts, CNS infections and spinal paresis, but the differences were not statistically significant.
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Magnetic resonance (MR) imaging and CT of three patients with Creutzfeldt-Jakob disease (CJD) showed bilateral cortical atrophy and no apparent white matter changes. Serial examinations revealed the progressive nature of the atrophy, findings compatible with the patients' clinical deterioration. At autopsy some white matter abnormalities were detected in one patient 6 months after MR imaging. The available data suggest that the white matter abnormalities, if present, develop during the final stage of CJD.