Genetic factors seem to play a role in symptomatic lumbar disc disease (LDD). It has been shown previously that a tryptophan mutation of the COL9A2 gene is a major risk factor for LDD in a Finish population. The impact of collagen gene variations on the relapse rate after lumbar discectomy, however, has not been studied so far. Here, we conducted a cross-sectional genotyping study of patients who underwent lumbar discectomy to determine the influence of a COL9A2 mutation on the recurrence rates. Biopsy samples from 288 patients suffering from LDD with and without relapse were analyzed by PCR restriction fragment analysis and direct sequencing. The mutated Trp2 allele was not detected in the patients' samples of the present study. However, nine patients with recurrent LDD, but only two without recurrence were homozygous for the Arg allele. Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant. In contrast, the Trp2 mutation seems not to be a major susceptibility factor for LDD in a German population.
Most frequently the ependymomas of the central nervous system affect the Conus medullaris and Filum terminale. Ependymomas of the thoracic spine with association of a tumor-caused syringomyelia are extremely rare. The reported 50 years old patient with a thoracic ependymoma realized first symptoms as a shoulder-arm pain caused by the tumor-syrinx. The case report indicates that MRI is the superior imaging modality for primary tumors of the central nervous system. All relevant diagnostic and therapeutic informations derived from the MRI. The article describes the clinical manifestations, the diagnostic way and therapeutic procedure in the problem region thoracic spine.
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