摘要:

Analysis of myelin from a leukodystrophic brain was performed (Pelizaeus-Merzbacher disease, classical type). Myelin recovery was 7% of normal, when isolated by ultracentrifugation. Electron microscopy showed a great amount of loose lamellae, with less thick sheaths and periodicity close to normal. This myelin contains fewer lipids than normal, sphingolipids and plasmalogens being reduced. Fatty acids from phospholipids are essentially normal, however enols from plasmalogens are largely reduced. Purified sphingolipids (cerebrosides, sulfatides and sphingomyelin) present a considerable diminution in very long chain fatty acids; the ratio of very long chain fatty acids (over C I8) on shorter chains is 1% of the normal value for saturated fatty acids and 2% for the monounsaturated homologues. Protein analysis showed that basic protein and proteolipids were reduced, Wolfgram proteins being relatively increased.

ISSN:0014-3022    

DOI:10.1159/000114969

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

A case of centronuclear myopathy is presented. The presence of central nuclei in almost all fibres, the existence of type I fibres only, the histochemical pattern of a negative central zone with a perinuclear halo and a hyperactive rim with oxidative enzymes and the ultrastructural data are discussed in the light of the previous literature. The possible relationships with other myopathies are taken into consideration as well as the fact that central nuclei may be a non-specific change in several conditions. Consequently centronuclear myopathy could turn out to be a syndrome from which different entities can be isolated.

ISSN:0014-3022    

DOI:10.1159/000114970

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

The aspiration biopsy needle is used with a special EMG electrode. Using this technique it is possible to adapt electromyographic and histological results in certain clinical cases.

ISSN:0014-3022    

DOI:10.1159/000114971

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

A family with Charcot-Marie-Tooth disease (CMT) is described. An irregular dominant sex-linked inheritance is observed. No linkage relationship between the Xg(a) blood group locus and the CMT locus was established. Abnormal values of the serum alkaline phosphatase level were found in affected and unaffected members.

ISSN:0014-3022    

DOI:10.1159/000114972

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

Nocturnal sleep patterns were registered from 6 parkinsonian patients treated with bromocryptine, ("-Br-L-ergocryptine, C.B.-154) a dopamine-like agonist. No significant differences in their sleep patterns were found in comparison with patients treated with L-dopa. Since bromocryptine acts direct on the dopaminergic receptor sites, it is suggested that the disturbed EEG sleep patterns in parkinsonian patients cannot be explained by altered dopaminergic or serotoninergic effects whether pre- or postsynaptic.

ISSN:0014-3022    

DOI:10.1159/000114973

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

In 29 cats, the extent and time-course of the pial arterial reactions to hypo- and hypercapnia were studied by means of the skull-window technique. The typical, well-known dilatations and constrictions during hyper- and hypocapnia were seen. The latent period for dilatation after the beginning of CO2-inhalation was ca. 20 sec. There was no stable relation observable between vessel diameter and arterial carbon dioxide tension (paCO2). Diameter changes lagged behind CO2-changes, indicating that CO2 acts via metabolic regulation, probably extracellular pH.

ISSN:0014-3022    

DOI:10.1159/000114974

出版商:S. Karger AG    

年代:1978

数据来源: Karger

摘要:

Torsion dystonia in 13-year-old girl progressed to severe opisthotonus and dystonic posturing of the limbs, accompanied by severe psychic changes, cachexia and calcification around joints. Drug therapy was ineffective. Ventrolateral thalamotomy and chlorpromazine brought about a delayed but remarkable amelioration of all symptoms and signs, still present 4 years later.

ISSN:0014-3022    

DOI:10.1159/000114975

出版商:S. Karger AG    

年代:1978

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114976

出版商:S. Karger AG    

年代:1978

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114977

出版商:S. Karger AG    

年代:1978

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114978

出版商:S. Karger AG    

年代:1978

数据来源: Karger