A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion… (More)
Much of the morbidity of intracranial meningiomas is related to the degree of tumour vascularity and the extent of peritumoural vasogenic oedema. Several studies have shown that vascular endothelial growth factor (VEGF) is up-regulated in meningiomas, although its relationship with tumour vasculature is still unclear. In order to better understand the… (More)
BACKGROUND Approximately 60% of meningiomas are associated with perilesional brain oedema. Several aspects have been evaluated in order to understand the pathophysiological mechanisms of oedema (age, sex of the patient, size and location of the tumour, histotype, grading), although at present they have yet to be completely clarified. We focused on pial… (More)
Calmodulin (CaM) is a calcium binding protein that plays numerous roles in Ca-dependent cellular processes, including uptake and release of neurotransmitters in neurons. α-Synuclein (α-syn), one of the most abundant proteins in central nervous system neurons, helps maintain presynaptic vesicles containing neurotransmitters and moderates their Ca-dependent… (More)
BACKGROUND Hereditary inclusion body myopathy (h-IBM) is an autosomal-recessive or autosomal-dominant hereditary disease characterized by peculiar findings in muscle biopsies which resemble those occurring in inclusion body myositis (IBM). The absence of an inflammatory infiltrate in myofibers in h-IBM is a relevant differential criterion between the two… (More)
since 1951, it is now a weekly with 48 issues per year.