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S al-Sarraj

Publications and source records attributed to S al-Sarraj.

15 recordsLinked to original sources
PubMed1997

Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation.

We report the clinical, genetic, and neuropathologic findings in a patient with rapidly progressive familial amyotrophic lateral sclerosis (ALS). We detected a point mutation at codon 48 of the Cu/Zn superoxide dismutase gene (SOD1) leading to a substitution of histidine by glutamine in the copper-binding domain. The histopathologic features are consistent with those described in rapidly progressive sporadic ALS and do not support claims that sporadic and familial disease are different pathologic entities. Neurofilamentous accumulations, hyaline, and ubiquitinated inclusions were present in the motor cortex, brainstem, and anterior horn cells, but there was no evidence of abnormal SOD1 immunoreactivity. This confirms that the cytoskeletal pathology specific to ALS is secondary to an unknown biochemical disturbance caused by mutant SOD1 molecules and not its toxic accumulation.

Amyotrophic Lateral Sclerosis↗
PubMed1995

Decreased expression of AMPA receptor messenger RNA and protein in AIDS: a model for HIV-associated neurotoxicity.

HIV infection can cause extensive neuronal loss and clinically a severe dementia. The cause of the neurotoxicity remains unclear as neurons are not infected, but disturbance of glutamate-linked calcium entry has been implicated. In this study, we have shown a decrease in HIV-infected brain of the expression of mRNA and protein of the GluR-A flop subtype of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) glutamate receptor in cerebellar Purkinje cells. Although Purkinje cells are relatively resistant to loss, the observed disturbance of AMPA receptors may contribute to the neurotoxic process in other vulnerable brain regions and clinically to the development of dementia.

AIDS Dementia Complex↗
PubMed1995

p53 immunoreactivity in astrocytomas and its relationship to survival.

p53 is a putative tumour suppressor gene implicated in a wide range of human malignancies. Mutation of p53 gene results in a more stable product and increased quantities of p53 protein in the cell. Thus, unlike the normal situation, mutated p53 is detectable by immunohistochemistry. We stained frozen sections of 74 astrocytomas with two antibodies to p53, PAb 1801 and PAb 421. Overall 18/74 (24%) of astrocytomas showed p53 immunoreactivity. Fifteen of 47 (32%) grade IV were p53 immunopositive, as were 3/16 (19%) grade III, 0/7 (0%) grade II and 0/4 (0%) grade I astrocytomas. These findings are in agreement with previous studies in showing relatively greater numbers of high grade than low grade p53 immunopositive tumours. Although we found an expected difference in survival according to grade, there was no significant difference in survival (p > 0.1) between p53 immunopositive and immunonegative tumours. We conclude that, whilst p53 undoubtedly plays an important role in the molecular 'chain' leading to malignancy in some astrocytomas, within tumours of comparable grade it does not appear to influence survival.

Adolescent↗
PubMed1995

p53 allelic imbalance in astrocytoma detected using fluorescent PCR of microsatellite repeat polymorphisms.

Previous reports have shown that p53 gene alteration plays an important role in tumourigenesis. Allelic loss of 17p in astrocytomas was detected in previous studies by restriction fragment length polymorphisms (RFLP). In this study we have analysed 47 cases of astrocytic tumours (26 glioblastomas [grade IV], 11 anaplastic astrocytomas [grade III], seven fibrillary astrocytomas [grade II] and three pilocytic astrocytomas [grade I]) for the presence of allelic imbalance at the p53 gene locus using intragenic markers. We used an informative method based on microsatellite polymorphisms at the p53 gene locus and fluorescent PCR. The fluorescently-labelled PCR products were then detected and analysed using an automated DNA sequencer with appropriate software. Seven of 47 (14.9%) cases were homozygous (uninformative). Five of the remaining 40 cases (12.5%) showed allelic imbalance at the p53 locus (three anaplastic astrocytomas [grade III] and two glioblastomas [grade IV]). None of the fibrillary astrocytomas (grade II) or pilocytic astrocytomas (grade I) showed allelic imbalance at the p53 locus. These results suggest that allelic imbalance at the p53 locus is not frequent and when it does occur is in high grade tumours.

Alleles↗
PubMed1995

Inflammatory pseudotumour of the central nervous system: clinicopathological study of one case and review of the literature.

A 58-year-old male who had been diagnosed as having polymyositis was found to have a mass in the fourth ventricle. This mass showed features of an inflammatory pseudotumor. This lesion has been described in many parts of the body including the central nervous system. This case showed some features different from the previously reported cases in the central nervous system (i.e. presence of necrosis and association with polymyositis) which may throw some light on the pathogenesis of the condition. Inflammatory pseudotumour is most likely to be caused by an exaggerated immunological process and is sometimes associated with high levels of serum immunoglobulin.

Biopsy↗
PubMed1994

Peripheral neuroepithelioma presenting as a spinal cord tumour.

A case of spinal cord tumour in a 41-year-old man is presented. The initial diagnosis was of metastatic small cell tumour. One year postoperatively he presented with a left cerebellopontine angle tumour which resolved with radiotherapy. Three years after initial presentation he remains well with no evidence of a primary tumour. Histological review shows the tumour to be a peripheral neuroepithelioma, which has not previously been reported to affect the spinal cord. The differential diagnosis of small cell spine tumours is discussed.

Adult↗