摘要:

A 51-year-old man who died of Creutzfeldt-Jakob disease (CJD), had transient dyskinesias with intention myoclonus and exaggerated startle reaction in early life. This may suggest a link between myoclonic encephalopathy of infants and CJD, and an incubation period of more than 40 years of the transmissible agent of CJD.

ISSN:0014-3022    

DOI:10.1159/000115057

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Antimeasles antibody was detected in the saliva of 14 patients with subacute sclerosing panencephalitis. Immuno fluorescent staining showed antibody in salivary gland biopsy of 7 patients.

ISSN:0014-3022    

DOI:10.1159/000115058

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The case of a 49-year-old man with Fabry’s disease (FD), confirmed by histo-pathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two deceased brothers of the patient were also affected with symptoms strongly suggesting FD, as well as with lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as in the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closely associated with the FD gene on the same chromosome can also be advance

ISSN:0014-3022    

DOI:10.1159/000115059

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

23 potential carriers of Duchenne muscular dystrophy (DMD) and 20 of their apparently healthy brothers were studied for evidence of any subclinical form of the disease. The results of the study confirmed that it was possible to confirm the diagnosis of a ‘high genetic risk’ carrier by integrating the results of clinical studies, estimation of basal serum CPK, steroid-CPK test, EMG and ECG observations. Similarly, the subclinical state of DMD could also be detected with certainty in 10% of the brothers of DMD carriers. The results may be applied for genetic counselling to bring down the incidence of the disease in the commun

ISSN:0014-3022    

DOI:10.1159/000115060

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Two patients with choreatic syndromes caused by polycythemia vera recovered after treatment of the polycythemia by only two venesections: this proves that the syndrome is due to reversible alterations. Investigations of the cerebral circulation in one of the patients showed that blood flow was lowest in the grey matter at the basal region of the brain: this suggests that the alterations might mainly occur there. However, investigation of erythrocyte rheology, glucoses-phosphate dehydrogenase, serum concentrations of caeruloplasmin and serotonin, and urinary excretion of epinephrine, norepinephrine and vanillylmandehc acid gave normal results in both patients. There are therefore no indications as to the possible pathophysiology of these alterations. There are now 24 cases reported, including our 2 patients, which suggests that the association of these two diseases may not be so rare as supposed.

ISSN:0014-3022    

DOI:10.1159/000115061

出版商:S. Karger AG    

年代:1979

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000213424

出版商:S. Karger AG    

年代:1906

数据来源: Karger

摘要:

A case of Behr’s disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entitie

ISSN:0014-3022    

DOI:10.1159/000115062

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Adenylate kinase activity and glutathione concentration were measured in cerebrospinal fluid (CSF) of 64 consecutive patients admitted for various neurological disorders. These two analyses were performed in addition to conventional examination of the CSF. Neurological symptoms most probably connected in some cases with no and in others with only subtle changes in the central nervous system were linked to no or only moderate activities of adenylate kinase together with no glutathione. 1 patient with meningioma had no adenylate kinase activity at all while 3 patients with malignant brain tumours showed clear activities similar to 3 patients with well established diagnoses of multiple sclerosis. On the contrary, glutathione was absent in CSF of the patients with brain tumours and multiple sclerosis. Various cerebrovascular diseases involving larger areas of the brain tissue resulted in clear adenylate kinase activities in CSF either alone as in 11 of the patients with cerebral infarction or in combination with the appearance of also glutathione as in the remaining 7 patients with cerebral infarction as well as in the 14 patients studied with hemorrhages of the brain.

ISSN:0014-3022    

DOI:10.1159/000115063

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

114 patients suffering from generalized grand mal seizures were treated with phenytoin only. Serum-phenytoin was monitored, and its relation to the frequency of attacks was established in each case, observing steady state periods of at least 3 months’ duration. In a group of 44 patients the reduction in pretreatment frequency of attacks was used to evaluate the drug effect. The probability of attacks followed an exponential function of serum-phenytoin. Curves of equal probability for further attacks were plotted; they may assist in determining the initial regimen. However, the high variability in responsiveness during a serum-phenytoin below 10 mg/l suggested that the effective level has to be determined separately and repeatedly for every single patien

ISSN:0014-3022    

DOI:10.1159/000115064

出版商:S. Karger AG    

年代:1979

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000213425

出版商:S. Karger AG    

年代:1906

数据来源: Karger