Surgical treatment of patients with cervical spinal cord injury by anterior approach using bone graft

Autor: Leal Filho, Manoel Baldoino
Rok vydání: 2002
Předmět:
Zdroj: Arquivos de Neuro-Psiquiatria, Vol 60, Iss 1, Pp 179-179 (2002)
Arquivos de Neuro-Psiquiatria, Volume: 60, Issue: 1, Pages: 179-179, Published: MAR 2002
ISSN: 1678-4227
0004-282X
Popis: THE STUDY OF CENTRAL NERVOUS SYSTEM INVOLVEMENT IN MITHOCHONDRIAL DISORDERS WITH MITOCHON-DRIAL DNA MUTATION. (ABSTRACT)*. THESIS. SAO PAULO, 2001.SUELY KAZUE NAGAHASHI MARIE**Mitochondrial disorders are a heterogeneous groupof diseases characterized by the dysfunction of the oxida-tive phosphorilation. As the protein complexes of the res-piratory chain are coded by both nuclear and mitochon-drial genomes, there are additional difficulties on the clini-cal and diagnostic approaches to those disorders.The RRF detected on muscle biopsy, a hallmark of mi-tochondrial proliferation, is not always present on thoseconditions, neither is the increase of lactic acid level.Since the first description of pathogenic mutation ofmitochondrial DNA (mtDNA), in 1988, a molecular crite-ria has been used for the classification of mitochondrio-pathies.Among 377 patients with clinical diagnosis of mito-chondrial disease and patients with maternal inheritanceof diabetes mellitus, and patients with maternal risk fac-tors of dementia, followed-up between the period of 1991to 2001, by our group, 145 met the clinical criteria forMELAS (40cases), MERRF (27 cases), Leigh Syndrome (LS)(32 cases), Kearns-Sayre Syndrome (KSS) (14 cases), andChronic Progressive External Ophthalmoplegia (CPEO) (32cases).Measurements of lactic acid level, muscle biopsy, andneuroimaging were performed on the majority of thecases. Molecular analysis were done on all patients look-ing for 8 point mutations of mtDNA in MELAS, 3 in MERRF,6 in LS, 1 in KSS/CPEO, and mtDNA rearrangements onKSS/CPEO.A3243G point mutation of mtDNA was detected in 18cases with MELAS, including 10 asymptomatic proband’sfamily members.A8344G mutation was observed in 5 cases with MERRF;T8993G and T8993C in two cases with LS; 14 differentmtDNA deletions in KSS and 11 deletions in CPEO, includ-ing 3 multiple deletions.Phenotypic variability was observed in all 5 groups,with overlap of MELAS, MERRF and LS in one patients,and MELAS and LS in another.An autopsy study of MELAS case showed an universaldistribution of A3243G mutation on all tissues studied.The neuropathological findings showed a diffuse degene-ration of cerebral cortex with neovascularization, a simi-lar picture observed on LS. Surprisingly the neurons wereapparently well preserved even when surrounded by de-generation.Atrophy and deep grey matter lesion were the mostfrequent neuroimaging findings, particularly in KSS andLS, when compared to MELAS and MERRF.The characteristic distribution of lesion on the tegmenof brain stem was observed in KSS and LS, which is similarto the presentation of Wilson’s disease. Interestingly, those3 diseases share a common alteration: mutation in genecoing for the complex V of the respiratory chain.Although the central nervous system is diffusely lesio-ned on mitochondriopathies, as show the most sensitivediagnostic methods as functional imaging, and immuno-histochemical methods, the order, the degree, and thevelocity of those alterations seen to present some differ-ences between the groups, as observed in our cases.A careful analysis concerning those parameters couldreveal new details for better understanding of the patho-genesis of the mitochondriopathies.KEY WORDS: KEY WORDS: mitochondrial disorders, mitochondrialDNA, encephalopaty, molecular biology, neuroimaging.
Databáze: OpenAIRE
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