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Biomedical subjects

R P Bruyn

Publications and source records attributed to R P Bruyn.

23 records · Page 2Linked to original sources
PubMed1990

The quinolinic acid hypothesis in Huntington's chorea.

In the central nervous system and particularly in the striatum of patients with Huntington's disease (HD) a dramatic cell loss can be observed. Animal models of HD are based on intrastriatal injection of excitatory amino acids (EAAs). Stimulation of EAA receptors for a prolonged period of time degenerates the cells on which the EAA receptors are located, a phenomenon known as excitotoxicity. Several categories of EAA receptors, viz. quisqualate, kainate and N-methyl-D-aspartate (NMDA), have been identified in the central nervous system. Interestingly, quinolinic acid, a metabolite of tryptophan along the kynurenine pathway, appeared to be an agonist on the NMDA receptor and a potent excitotoxin. Indications have been reported, although still controversial, for derangements in the formation of quinolinic acid to occur in the brains of patients with HD. Based on these studies the likeliness of a role for quinolinic acid in the etiology of HD is evaluated.

Brain↗
PubMed1990

A Dutch family with autosomal dominant pure spastic paraparesis (Strümpell's disease).

Families with "pure" hereditary spastic paraparesis of late onset have rarely been reported. Since the original article by Strümpell in 1880, many "complicated" forms of the disorder have been reported, and the question as to whether a "pure" form exists still arises from time to time. We present a Dutch family with "pure" hereditary spastic paraparesis, involving 15 affected members in three generations. The mode of inheritance was autosomal dominant, with onset of clinical signs in the fourth or fifth decade. Severity of the disease was mild; only a few of them became chairbound in the end. There were no sensory symptoms. Mild sphincter disturbances were mentioned by six patients. A review of the reports on Dutch families is given and arguments in favour of the existence of "pure" hereditary spastic paraparesis are discussed.

Adult↗
PubMed1989

Thalamic aphasia. A conceptional critique.

Four patients with aphasia due to small circumscribed thalamic lesions are presented. A review of the literature on thalamic aphasia revealed 16 similar cases. While the general consensus that only left-sided thalmic lesions are associated with aphasia is confirmed, analysis of the sites of the thalamic infarctions and the dysphasia elements did not reveal an unequivocal correlation. The explanation of this finding is that (a) disruption of any circuit, whether taking place in the connections or in the nuclei, leads to dysfunction and (b) thalamofrontal connections are not topographically arranged according to the thalamic nuclei, but show a frontal rostrocaudal/thalamic mediolateral interrelationship irrespective of thalamic nuclear masses.

Adolescent↗
PubMed1987

Sneddon's syndrome. Case report and literature review.

Diagnostic and therapeutic problems of Sneddon's syndrome are reviewed on the basis of the observation of a pregnant 36-year-old female. She had had Hodgkin's disease stage I, curatively treated when she was 23 years old. She developed cerebral ischemic events, initially ascribed to isolated cerebral angiitis, associated with progressive dermatological lesions (generalised livedo racemosa). A temporal artery biopsy did not reveal giant cell angiitis, while the cutaneous arterioles in a biopsy showed marked intimal proliferation without inflammatory cell infiltration. The literature on Sneddon's syndrome is reviewed.

Adult↗