Glutamic acid decarboxylase (GAD) is an enzyme which converts the glutamic acid to the neurotransmitter gamma-amino butyric acid (GABA). GABA is an inhibitory neurotransmitter that inhibits or weakens the neuronal stimulations. Presynaptic GABAergic neurons in the central neurons system (CNS) and the cells in the islets of Langerhans in the pancreas generate GAD. There are two isoforms of GAD n...

Neurological disorders are a significant cause of morbidity and mortality in pregnancy. In the UK between 2003 and 2005, women with neurological conditions accounted for 37 out of a total 87 ‘indirect’ maternal deaths (those not arising from pregnancy or birth), with stroke (n = 24) and epilepsy (n =11)1 accounting for the majority of deaths from neurological causes2. Neurological assessment ca...

np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

it has been estimated that more than 1.7 million individuals suffer a traumatic brain injury (tbi) each year. tbi causes secondary biochemical and metabolic changes which contribute to subsequent tissue damage and associated neuronal cell death. two early and delayed events occur after tbi, which results in neurological deficits. primary injury events include the mechanical damage that occur at...

superficial siderosis (ss) is a rare disease which affects people in all ages and both sexes, but three times more in men. pathological etiology is deposition of hemosiderin (a product of the breakdown of blood) in leptomeninges, subpial layer, ependymal surface and other parts of central nervous system (cns) and typically leads to neurological dysfunction and progressive irreversible signs and...

how to cite this article: karimzadeh p. juvenile type of niemann-pick type c disease and our study in iranian npc patients. iran j child neurol. 201 5 autumn;9:4(suppl.1): 5-6. pls see pdf.