The coupling between synaptic activity and glucose utilization (neurometabolic coupling) is a central physiologic principle of brain function that has provided the basis for 2-deoxyglucose-based functional imaging with positron emission tomography. Approximately 10 y ago we provided experimental evidence that indicated a central role of glutamate signaling on astrocytes in neurometabolic coupli...

The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels ...

Background: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurometabolic disease whose treatment consists of enzyme replacement therapy (ERT) performed through syringe pump connected to catheter surgically implanted in the cerebral ventricle. The brought about change natural history these patients. However, there are several barriers implementation this therapy.

Metabolic disorders of the central nervous system (CNS) include pathologies with extremely different pathogenesis. The clinical diagnosis of these disorders is often very difficult and requires sophisticated laboratory investigations. Proton magnetic resonance (MR) spectroscopy (1H-MRS) has been recently used in a number of clinical studies to supplement conventional MRI as it is able to provid...

OBJECTIVE: To review the underlying pathophysiologic processes of concussive brain injury and relate these neurometabolic changes to clinical sports-related issues such as injury to the developing brain, overuse injury, and repeated concussion. DATA SOURCES: Over 100 articles from both basic science and clinical medical literature selected for relevance to concussive brain injury, postinjury pa...

OBJECTIVE GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHODS Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's...

how to cite this article: jabbehdari s, rahimian e, jafari n, sanii s, khayatzadeh kakhki s, nejad biglari h. the clinical features and diagnosis of metachromatic leukodystrophy: a case series of iranian pediatric patients. iran j child neurol. summer 2015;9(3):57-61. abstract objective metachromatic leukodystrophy disorder (mld) is one of the rare neurometabolic diseases caused due to lack of ...

how to cite this article: karimzadeh p, jafari n, alai mr, jabbehdari s, ahmad abadi f, nejadbiglari h. homocystinuria: diagnosis and neuroimaging findings - of iranian pediatric patients. iran j child neurol. 2015 winter;9(1):94-98. abstract objective homocystinuria is a neurometabolic diseases characterized by symptoms include neurodevelopmental delay, lens dislocation, long limbs and thrombo...