摘要:

In a 5-year follow-up of a case of adult metachromatic leukodystrophy, already diagnosed in the preclinical stage, the development of the symptoms of this disease could be studied in detail: initially, lack of drive, emotional lability and depressive mood. At the same time, pain in the arms and beginning gait disturbance. Later, impairment of memory and concentration, disorientation, inadequate behavior and progression of gait disturbance. Finally spastic atactic gait with small steps and dyspractic components, coordination disturbances with writing dysfunction, fast dysarthria speech, hyperkinetic activity, compulsory emotional outbursts and progressive dementia. Only minor neurological signs such as reflex abnormalities. In the EEG, slight slowing of frequencies compared to earlier tracings. Increasing diminution of nerve conduction velocity in the lower limbs. Only minor increase of CSF protein (51 mg%). In spite of normal vision, evoked visual potentials abnormal, response of optical and electrical blink reflexes delayed. Imperfect filling of gallbladder. No significant quantitative changes of the biochemical parameters compared with the findings made 5 years earlier (excretion of urinary sulfatides, diminished activity of arylsulfatase A in urine and leukocytes).

ISSN:0014-3022    

DOI:10.1159/000114818

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastructurally, the latter consisted of various types of residual bodies including the tufaceous and prismatic forms typical of MLD. In the striated muscle, large amounts of regular lipofuscin but no MLD-characteristic inclusions were encountered. Inclusion-bearing mitochondria in the muscle appeared to be an incidental finding.

ISSN:0014-3022    

DOI:10.1159/000114819

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Two related cases with progressive external ophthalmoplegia are presented. Muscle biopsy studied by electron microscopy revealed abnormal mitochondria. All signs and findings suggest that the pathological process involves muscles, nerves, retina and central nervous system.

ISSN:0014-3022    

DOI:10.1159/000114820

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

A case of progressive external ophthalmoplegia is described, in which the onset of the illness was at 28–30 years, with fatigability and muscular pains in the lower limbs as presenting symptoms. At 36–37 years weakness of the mimic muscles also appeared and fatigability and muscular pains spread to the upper limbs: EMG examinations showed signs of light myopathic involvement of the shoulder-girdle muscles, so that a muscular biopsy was performed (right deltoid). Histoenzymologic studies showed the presence of generally atrophic dark fibres, which can be brought about to red-ragged fibres. Ultrastructural study showed bizarrely shaped mitochondria, with dense matrix and circular and confluent cristae, which were found in fibres with plenty of indifferent sarcoplasm and with anomalies in myofibrils. No mitochondrial inclusions were s

ISSN:0014-3022    

DOI:10.1159/000114821

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

This work investigates the method of ‘transcerebral electrolysis’ in rabbits previously used by other authors (e.g. G. Bourguignon). The observation of the animal, with EEG record, and the macroscopic and microscopic studies, have allowed to precise the physical parameters which do not damage the brain functions: current intensity of not more than 5 mA, applied on large electrodes. In this manner, without traumatization of the brain, the blood-brain barrier allows passage of many substances (dyes, tracers, drugs) and this permeability remains for several d

ISSN:0014-3022    

DOI:10.1159/000114822

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Pneumoencephalographic data in five male patients with cough syncope were compared to those from age-matched patients with syncope from other causes. The 3rd ventricle width was significantly larger in patients with cough syncope than in the control group (p < 0.01). Theoretically, the most plausible role of hydrocephalus ex vacuo in cough syncope may be: either it causes increased sensitivity to changes normally encountered during coughing, or – which seems less likely – it may abolish mechanisms normally restraining co

ISSN:0014-3022    

DOI:10.1159/000114823

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Serum from patients with multiple sclerosis (MS) and other diseases was added to the medium perfusing isolated hemisected frog spinal cord, and the effect on ventral root responses (VRR) tested. As control, a standardized commercial human serum (Moni-trol I) was used. In 25 out of 40 spinal cord preparations Moni-trol gave inhibition of VRR ranging from 2.8 to 23.1%. 76% of the tests with confirmed MS sera showed inhibition of VRR, after deduction of the control serum effect, while 53% of the tests with sera from other diseases were inhibitory. Sera from cases of suspected but clinically unconfirmed MS gave strong inhibition (above 20%).

ISSN:0014-3022    

DOI:10.1159/000114824

出版商:S. Karger AG    

年代:1977

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114825

出版商:S. Karger AG    

年代:1977

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114826

出版商:S. Karger AG    

年代:1977

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000219288

出版商:S. Karger AG    

年代:1904

数据来源: Karger