R. van den Bergh

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

BACKGROUND Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than a century of research, no cause of, cure for, or means of preventing this disorder has been found. In a minority of cases, it is familial and inherited as an autosomal dominant trait with age-dependent penetrance. In contrast to the sporadic form of amyotrophic lateral sclerosis, the familial form provides the opportunity to use molecular genetic techniques to localize an inherited defect. Furthermore, such studies have the potential to discover the basic molecular defect causing motor-neuron degeneration. METHODS AND RESULTS We evaluated 23 families with familial amyotrophic lateral sclerosis for linkage of the gene causing this disease to four DNA markers on the long arm of chromosome 21. Multipoint linkage analyses demonstrated linkage between the gene and these markers. The maximum lod score--5.03--was obtained 10 centimorgans distal (telomeric) to the DNA marker D21S58. There was a significant probability (P less than 0.0001) of genetic-locus heterogeneity in the families. CONCLUSIONS The localization of a gene causing familial amyotrophic lateral sclerosis provides a means of isolating this gene and studying its function. Insight gained from understanding the function of this gene may be applicable to the design of rational therapy for both the familial and sporadic forms of the disease.

Treatment results in primary intraspinal gliomas

During the period 1970-1990, 50 patients with primary intraspinal gliomas were treated with either surgery alone or combined surgery and postoperative irradiation. Thirty-four patients had an ependymoma. In this group, 17 patients had a macroscopically total tumor resection; 14 of these patients did not receive further additional treatment. The other 17 patients underwent a partial resection or biopsy; 11 of these patients received postoperative radiation therapy. There were 13 patients with astrocytoma and none of these tumors was radically resected. Twelve patients with astrocytoma received postoperative radiation therapy. Average total dose was 49 Gy for both histological types. The 10-year survival rate in the whole group of patients with ependymomas was 91%. Patients with ependymoma treated with partial tumor resection followed by radiotherapy had a similar survival rate as patients with total resected tumors without postoperative irradiation. The local recurrence rate of ependymomas was 25%, without differences between both treatment modalities. There were 3 major complications due to surgery and no late complications related to radiotherapy. The 10-year survival rate in the group of patients with astrocytoma was 43% and tumor progression was the most important cause of death. Three patients had a spongioblastoma and were treated with radiotherapy following biopsy or partial resection. These patients are alive 6, 11 and 15 years after treatment without evidence of disease. On the basis of our retrospective data and those in the literature we would recommend postoperative radiation therapy in all the intraspinal gliomas where total tumor resection is not possible. The recommended total dose is 50 Gy in 5-6 weeks.

Low Grade Astrocytoma in Children Treated by Surgery and Radiation Therapy

Results of treatment of low grade astrocytoma by surgery and postoperative irradiation in 35 children under 15 were retrospectively analysed. The actuarial overall 5 and 10 year survival was 94 and 82 per cent, the actuarial relapse-free survival 87 and 70 per cent, respectively. The male patients fared better, although not significantly, than the females. No significant difference in relapse rate was found between cystic and solid tumors. The cystic processes had a more indolent course, but a fatal outcome was noted in one case (after 21 years). No relapse occurred in totally removed tumors (10 cases), which throws doubt on the need for postoperative irradiation in this subgroup. In the subtotally resected processes (24 cases) radiation therapy seemed to be beneficial, as in 3 of 4 local recurrences geographic misses of tumour remains probably existed. No dose response relationship was apparent. The performance status was severely impaired in 11 per cent (3/27 patients). Growth retardation was observed in 2 patients.

Vascularization and Angioarchitecture of the Human Pes hippocampi

After studying the vascularization and the angioarchitecture of the pes hippocampi by means of selective arteriograms, the authors suggest a number of modifications to the classical concepts of arteriolar penetration into this area. Their most striking finding was the typical stratification of the paraventricular area as compared with the gyrus dentatus which is more monomorphically vascularized. The stratum granulosum appeared not to represent a vascular barrier between these two zones. The authors emphasize the remarkable correlation between the fibrillar and cytological construction of the various layers on one hand and their angioarchitectural characteristics on the other.

The glossopharyngeal neurinoma: case reports and literature review

Glossopharyngeal neurinomas are rare entities. Only 16 cases have been described so far in the literature. Our experience with 2 cases demonstrates the non-specific and discrete clinical presentation of the ninth nerve neurinoma, but illustrates also some typical radiological aspects, enabling a more precise preoperative diagnosis. Two cases are presented and a survey of the literature is given.

Metrizamide enhanced CT in hydrosyringomyelia

SummaryThe exact evaluation of a hydrosyringomyelic cyst by metrizamide enhanced CT is reported. After intraventricular injection of metrizamide and overflow of contrast medium in the central canal of the spinal cord, CT scan revealed the exact shape and extension of the cyst from C0 to T7.

Comparative study of the sensitivity of CT and quantitative angioscintigraphy in cerebrovascular disease.

A method for multiparametric quantitative cerebral angioscintigraphy is described. For the evaluation of the symmetry of hemispherical bolus transit the following parameters were used: the cumulative L/R hemispheric ratios expressed in arctangent values and the sequential hemispheric activity difference. Both the sensitivity and specificity of this technique for detection of proven stenosis of carotid or cerebral arteries (25 cases) were 80%, in comparison with 60% for computerized axial tomography. A few clinical examples illustrate the diagnostic utility of quantitative cerebral angioscintigraphy. The value of the different quantitative parameters is discussed and compared with other similar studies. With regard to the complementary role of computerized axial tomography and serial cerebral scintigraphy the results of other authors were confirmed.Considering the broad field of application for dynamic brain scintigraphy and the fact that both sensitivity and specificity of this exploration are comparable to, or even better than, CT, it is our opinion that isotopic exploration remains a reliable detection method for cerebrovascular discase.

Plexectomy in the Management of Hydrocephalus

The result of plexectomy in 22 cases of hydrocephalus is reported. The technique used, characterized by the insertion of a self-retaining plastic retractor in the ventricle avoiding the collapse of th

Indications for Posterior Fossa Surgery in Syringomyelia

In spite of numerous studies dedicated to syringomyelia, and in spite of important results of neurosurgical therapy, there still remain many doubts about the diagnostic and therapeutic management of this disease.

Congenital elevation of the scapula and Brown-Sequard syndrome.

We describe the case of a 14-year-old boy with a Sprengel deformity and a Brown-Séquard syndrome on the basis of a compression of the spinal cord at level C4. Although there are several publications on anomalies associated with Sprengels deformity, this is, to our knowledge, the first description of a case with spinal cord compression.