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The apolipoprotein E (APOE) polymorphism is known to impact on various neurologic disorders and has differential effects on the immune system and on CNS repair. Previous findings concerning a possible modulation of the clinical course of MS have been inconsistent, however.

Wilson's disease is a disorder of biliary copper excretion that may result in severe neurological symptoms and advanced liver disease. The wide variation of phenotypic disease expression cannot be fully explained by the different mutations of the Wilson disease gene. In neurological disorders, such as Alzheimer's disease, temporal lobe epilepsy and cerebral trauma, the presence of the apolipoprotein E (ApoE) allele ε4 is associated with an increased vulnerability of the brain to the effects of the disease, whereas the presence of the ApoE genotype ε3/3 appears to provide moderate neuroprotection. We examined whether this hypothesis holds true for the development of neurological symptoms in patients with Wilson's disease. The ApoE genotype and the H1069Q mutation (the most common in Wilson's disease) status were determined by polymerase chain reaction-based mutation assays in 121 well-characterized, symptomatic index patients with Wilson's disease. An investigation profile was established in which the patients were grouped according to the clinical symptoms at presentation, the ApoE genotypes and the status of the H1069Q mutation. Fifty-nine per cent of the 121 patients had the allele combination ApoE ε3/3 (21% ApoE ε3/4, 19% ApoE ε3/2, 1% ApoE ε4/2). The distribution of ApoE genotypes did not deviate from known distributions in healthy European subjects. Within the group of 40 H1069Q-homozygous patients, the onset of symptoms was significantly delayed in patients with the ApoE ε3/3 genotype (25 ± 6 years at presentation) compared with patients with the ApoE ε3/4 genotype (20 ± 3 years at presentation). In this study, the ApoE genotype was established as an important factor delaying the onset of neurological and hepatic symptoms, but not modifying phenotypic disease expression in a homogenous group of patients with Wilson's disease (all H1069Q-homozygotes, similar genetic background). The presence of ApoE ε3/3 attenuates clinical manifestations in Wilson's disease by mechanisms which might involve the antioxidant and membrane-stabilizing properties of the ApoE 3 protein.

Using exploratory factor analysis, we prospectively investigated neuropsychiatric symptoms and structural brain lesions of 47 patients with proven Wilson's disease and identified three subgroups. The first subgroup clinically exhibited bradykinesia, rigidity, cognitive impairment, and an organic mood syndrome and by MM showed a dilatation of the third ventricle. The second subgroup was characterized by ataxia, tremor, reduced functional capacity, and focal thalamic lesions. The third subgroup showed dyskinesia, dysarthria, an organic personality syndrome, and focal lesions in the putamen and in the pallidum.

Summary A 15 year old girl experienced Homer's syndrome on the right side, paraesthesia of the right arm and meningitis. CT and MRI showed a cystic lesion on the right side of the cervical spine at C3/C4 which descended with an extraspinal portion down to C6. Histology revealed a complex neurenteric cyst. The ipsilateral vertebral artery showed an atypical course. This abnormal artery besides a partial fusion of the vertebrae C2/C3/C4 suggest a complex malformation at the site of the cyst.

Viscoelastic parameters were measured in whole blQod of 19 multiple sclerosis patients (all of whom exhibited spastic paraparesis from chronic progressive disease course) and compared to age- and gender-matched control values of healthy subjects using an oscillatory capillary rheometer.At shear rates of 10 and 50 s−1elasticity of multiple sclerosis patients was found to be significantly increased whereas filtration index, shear resistance and aggregation index of erythrocytes were equal in patients and control subjects. No differences were found when viscoelastic parameters of young (28–50 years) were compared to those of elderly (51–65 years) patients. Male patients showed higher elasticity values at a shear rate of 10 s−1than female patients. Severely impaired multiple sclerosis patients (EIS score 7–8) showed higher elasticity values at a shear rate of 50 s−1than patients with less neurological impairment (EIS score 4–6).Our results indicate that elastic parameters are increased in whole blood of multiple sclerosis patients in comparison to controls, especially at low shear rates, even more so in male patients and in patients with severe neurological impairment.It is concluded that a subgroup of multiple sclerosis patients might be at risk for thromboembolic complications and might benefit from hemodilution therapy or the application of drugs inhibiting platelet aggregation.

The aim of the present study was to investigate whether analgesic-induced chronic headache is associated with hemorheologic dysfunction. The viscoelastic properties of whole blood from 28 patients with chronic headache induced by regular use of analgesics were compared to the viscoelastic properties from 28 healthy control subjects matched with respect to age, sex, cigarette smoking, and intake of oral contraceptives. Fifteen of the investigated 28 patients originally suffered from migraine, 13 from tension-type headaches. Prior to analgesic drug-withdrawal, blood viscosity at shear rates 10/s and 50/s, blood elasticity at 50/s (each adjusted to a hematocrit of 45%), and the calculated shear resistance of erythrocytes in patients, originally suffering from tension-type headaches, were significantly higher than the corresponding values in control subjects. In contrast, most viscoelastic properties in migraine patients with the exception of blood elasticity at 50/s did not differ significantly from controls. A standardized analgesic drug-withdrawal therapy was administered for 10 days during hospitalization.Patients were re-examined 30 days after analgesic withdrawal. There were no relevant differences of viscoelastic properties in migraine and tension-type headache patients in comparison to the viscoelastic properties prior to drug-withdrawal therapy. The results of the present study indicate that hemorheologic dysfunction does not play a major role in the pathogenesis of analgesic-induced chronic headache.

Seventy-two adult patients suffering spontaneous subarachnoid haemorrhage (SAH) were investigated concerning early mortality. Five patients died within 3 weeks after the onset of clinical symptoms. A demonstrable bleeding source and a Hunt-Hess score >2 were found to be powerful predictive factors for early mortality. Sixty-seven survivors of SAH were examined at an average of 85 months after their first bleeding with regard to working capacity. Various clinical variables and different rating scales during the acute and subacute stage of SAH were identified retrospectively, and their prognostic value for working capacity was investigated. We found that all clinical features at the acute stage of SAH were not predictive of limited working capacity. At the time of discharge, however, organic brain syndrome, focal neurological deficits and a low Barthel Index proved to be significantly related to impaired working capacity. A Hunt-Hess score >2 on admission, and a demonstrable bleeding source, were powerful predictors for early death, but not for impaired working capacity of survivors of SAH.

Summary To visualise and quantify dopamine D2 receptor binding in the corpus striatum of patients with neurological Wilson's disease (WD) 123I-Iodobenzamide (IBZM) binding was measured using single photon emission computer tomography (SPECT). Ratios of striatal to frontal countrates were calculated in 8 patients and in 21 healthy control subjects. We found reduced IBZM binding ratios in all patients with WD in comparison to those in controls (1.48 +- 0.13 vs. 1.73 +- 0.09). The reduction in IBZM binding was correlated with the overall severity of neurological deficits and the severity of dysarthria (correlation coefficients -0.86 [p < 0.01] and -0.79 [p s< 0.01], respectively). When patients of three different subgroups of neurological WD were compared no differences in IBZM binding were found. We conclude that assessing basal ganglia function in vivo using IBZM-SPECT is a valuable diagnostic tool in WD.

Summary Distribution and number of ischemic cerebrovascular events were studied in 57 patients who suffered from heart disorders with proven or highly probable source of cardiac embolism and compared to 39 patients with ulcerations of the craniocervical vessels. Patients with coexisting lesions were excluded from the present study. Out of the 57 patients with cardiac disorders, a single episode of cerebral embolism occurred in 33 patients. Of the 24 patients with recurrent ischemic episodes, different vascular territories were involved in only six cases. There was no evidence of a distinct distribution of vascular territories involved in cerebral embolism. The left middle cerebral artery was affected in 42.9%, the right middle cerebral artery in 23.8%, the vertebrobasilar territory in 19%, and the ophthalmic arteries in 14.2%. Statistical analysis revealed no significant differences in lesion localization between the group with a cardiac source of embolism and the group with ulcerations of the craniocervical vessels. There was a high frequency of patients with recurrent cardiogenic emboli in the ophthalmic (6 of 9 patients) as well as in the vertebrobasilar (6 of 12 patients) circulation who experienced a delayed initiation of cardiac assessment. The possibility of cardiac embolism should be considered in any patient with cerebral ischemia, independently of the vascular territory affected.