Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.
Basal Ganglia ; Basal Ganglia Diseases ; Brain ; Humans ; Iron ; Iron Metabolism Disorders/therapy*

Neurodegeneration with brain iron accumulation (NBIA) is a disorder characterized by various mixtures of extrapyramidal, pyramidal or psychiatric abnormalities associated with iron accumulation in the basal ganglia. The mutations in the pantothenate kinase gene (PANK2) were found in approximately two thirds of the patients with NBIA. We report three patients wtih NBIA, and two of them showed mutations in the PANK2 gene.
Basal Ganglia ; Brain ; Humans ; Iron ; Iron Metabolism Disorders ; Neuroaxonal Dystrophies ; Phosphotransferases ; Phosphotransferases (Alcohol Group Acceptor)

PURPOSE: Bilateral high signal intensity in basal ganglia on Tl-weighted images is unusual. the purpose of this study is to describe the pattern of high signal intensity and underlying disease. METHODS AND MATERIALS: During the last three years, 8 patients showed bilateral high signal intensity in basal ganglia on Tl-weighted image, as compared with cerebral white matter. Authors analized the images and underlying causes retrospectively. Of 8 patients, 5 were male and 3 were female. The age ranged from 15 days to 79 years. All patient were examined by a 0.5T superconductive MRI. Images were obtained by spin echo multislice technique. RESULTS: Underlying causes were 4 cases of hepatopathy, 2 cases of calcium metabolism disorder, and one case each of neurofibromatosis and hypoxic brain injury. These process were bilateral in all cases and usually symmetric. In all cases the hyperintense areas were generally homogenous without mass effect or edema, although somewhat nodular appearence was seen in neurofibromatosis. Lesions were located in the globus pallidus and internal capsule in hepatopathy and neurofibromatosis, head of the caudate nucleus in disorder of calcum metabolism, and the globus pallidus in hypoxic brain injury. CONCLUSION: Although this study is limited by its patient population, bilateral hyperintense basal ganglia is associated with various disease entities. On analysis of hyperintense basal ganglia lesion, the knowledge of clinical information improved diagnostic accuracy.
Basal Ganglia* ; Brain ; Brain Injuries ; Calcium Metabolism Disorders ; Caudate Nucleus ; Edema ; Female ; Ganglia ; Globus Pallidus ; Head ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Male ; Metabolism ; Neurofibromatoses ; Retrospective Studies

A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR. The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.
Basal Ganglia/pathology ; Case Report ; Dystonia/diagnosis/*etiology ; Energy Metabolism ; Human ; Infant ; Leigh Disease/*diagnosis/metabolism/pathology ; Male ; Muscles/pathology

Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with encephalopathy episode that results in acute basal ganglia and white matter degeneration. The majority of patients develop a dystonic-dyskinetic syndrome. This reports 6year-old boy who had been done previous gastrostomy due to swallowing difficulty underwent bilateral pallidotomy with intraoperative electromyography(EMG) monitoring for disabling dystonia. Intraoperative EMG was used to assess stimulation thresholds required for capsular responses and muscle tone. Surface EMG electrodes were placed on the face and cricopharyngeal muscles. Exact target were directly modified according to MRI-visualized anatomy. EMG response was consistently seen prior to visual observation of muscle activity. The surgery improved dystonic symptoms without swallowing difficulty.
Basal Ganglia ; Deglutition ; Dystonia* ; Electrodes ; Gastrostomy ; Glutaryl-CoA Dehydrogenase ; Humans ; Hydroxylysine ; Lysine ; Male ; Metabolism ; Muscles ; Pallidotomy* ; Tryptophan

Wilson's disease is associated with abnormal deposition of copper in the brain, liver, kidneys and other body tissues, apparently due to an inherited defect in copper metabolism. Clinically the disorder is manifested by signs and symptoms of basal ganglia disease, postnecrotic hepatic cirrhosis, Kayser-Fleischer rings, hypoceruloplasminemia, hypocupremia, hypouricemia, cupruresis, and aminoaciduria. The authors experienced a case of Wilson's disease showing the characteristic signs such as Kayser-Fleischer rings, dysarthria, dysphagia and muscular rigidity, without any signs of liver involvement. A review of this case is provided with the literature.
Basal Ganglia Diseases ; Brain ; Copper ; Deglutition Disorders ; Dysarthria ; Hepatolenticular Degeneration* ; Kidney ; Liver ; Liver Cirrhosis ; Metabolism ; Muscle Rigidity

PURPOSE: Gender differences in personality are considered to have biological bases. In an attempt to understand the gender differences of personality on neurobiological bases, we conducted correlation analyses between regional brain glucose metabolism and temperament factors of personality in males and females. MATERIALS AND METHODS: Thirty-six healthy right-handed volunteers (18 males, 33.8+/-17.6 y; 18 females, 36.2+/-20.4 y) underwent FDG PET at resting state. Three temperament factors of personality (novelty seeking (NS), harm avoidance (HA), reward dependence (RD)) were assessed using Cloninger's 240-item Temperament and Character Inventory (TCI) within 10 days of FDG PET scan. Correlation between regional glucose metabolism and each temperament factor was tested using SPM2. RESULTS: In males, a significant negative correlation between NS score and glucose metabolism was observed in the bilateral superior temporal gyri, the hippocampus and the insula, while it was found in the bilateral middle frontal gyri, the right superior temporal gyrus and the left cingulate cortex and the putamen in females. A positive HA correlation was found in the right midbrain and the left cingulate gyrus in males, but in the bilateral basal ganglia in females. A negative RD correlation was observed in the right middle frontal and the left middle temporal gyri in males, while the correlation was found in the bilateral middle frontal gyri and the right basal ganglia and the superior temporal gyrus in females. CONCLUSION: These data demonstrate different cortical and subcortical metabolic correlates of temperament factors of personality between males and females. These results may help understand biological substrate of gender differences in personality and susceptibility to neuropsychiatric illnesses.
Basal Ganglia ; Brain ; Female ; Glucose ; Gyrus Cinguli ; Hippocampus ; Humans ; Male ; Mesencephalon ; Metabolism ; Positron-Emission Tomography ; Putamen ; Reward ; Temperament* ; Volunteers

PURPOSE: Gender differences in personality are considered to have biological bases. In an attempt to understand the gender differences of personality on neurobiological bases, we conducted correlation analyses between regional brain glucose metabolism and temperament factors of personality in males and females. MATERIALS AND METHODS: Thirty-six healthy right-handed volunteers (18 males, 33.8+/-17.6 y; 18 females, 36.2+/-20.4 y) underwent FDG PET at resting state. Three temperament factors of personality (novelty seeking (NS), harm avoidance (HA), reward dependence (RD)) were assessed using Cloninger's 240-item Temperament and Character Inventory (TCI) within 10 days of FDG PET scan. Correlation between regional glucose metabolism and each temperament factor was tested using SPM2. RESULTS: In males, a significant negative correlation between NS score and glucose metabolism was observed in the bilateral superior temporal gyri, the hippocampus and the insula, while it was found in the bilateral middle frontal gyri, the right superior temporal gyrus and the left cingulate cortex and the putamen in females. A positive HA correlation was found in the right midbrain and the left cingulate gyrus in males, but in the bilateral basal ganglia in females. A negative RD correlation was observed in the right middle frontal and the left middle temporal gyri in males, while the correlation was found in the bilateral middle frontal gyri and the right basal ganglia and the superior temporal gyrus in females. CONCLUSION: These data demonstrate different cortical and subcortical metabolic correlates of temperament factors of personality between males and females. These results may help understand biological substrate of gender differences in personality and susceptibility to neuropsychiatric illnesses.
Basal Ganglia ; Brain ; Female ; Glucose ; Gyrus Cinguli ; Hippocampus ; Humans ; Male ; Mesencephalon ; Metabolism ; Positron-Emission Tomography ; Putamen ; Reward ; Temperament* ; Volunteers

The globus pallidus occupies a critical position in the 'indirect' pathway of the basal ganglia and, as such, plays an important role in the modulation of movement. In recent years, the importance of the globus pallidus in the normal and malfunctioned basal ganglia is emerging. However, the function and operation of various transmitter systems in this nucleus are largely unknown. GABA is the major neurotransmitter involved in the globus pallidus. By means of electrophysiological recording, immunohistochemistry and behavioral studies, new information on the distribution and functions of the GABAergic neurotransmission in the rat globus pallidus has been generated. Morphological studies revealed the existence of GABA(A) receptor, including its benzodiazepine binding site, and GABA(B) receptor in globus pallidus. At subcellular level, GABA(A) receptors are located at the postsynaptic sites of symmetric synapses (putative GABAergic synapses). However, GABA(B) receptors are located at both pre- and postsynaptic sites of symmetric, as well as asymmetric synapses (putative excitatory synapses). Consistent with the morphological results, functional studies showed that activation of GABA(B) receptors in globus pallidus reduces the release of GABA and glutamate by activating presynaptic auto- and heteroreceptors, and hyperpolarizes pallidal neurons by activating postsynaptic receptors. In addition to GABA(B) receptor, activation of GABA(A) receptor benzodiazepine binding site and blockade of GABA uptake change the activity of globus pallidus by prolonging the duration of GABA current. In agreement with the in vitro effect, activation of GABA(B) receptor, GABA(A) receptor benzodiazepine binding site and blockade of GABA uptake cause rotation in behaving animal. Furthermore, the GABA system in the globus pallidus is involved in the etiology of Parkinson's disease and regulation of seizures threshold. It has been demonstrated that the abnormal hypoactivity and synchronized rhythmic discharge of globus pallidus neurons associate with akinesia and resting tremor in parkinsonism. Recent electrophysiological and behavioral studies indicated that the new anti-epileptic drug, tiagabine, is functional in globus pallidus, which may present more information to understand the involvement of globus pallidus in epilepsy.
Animals ; Basal Ganglia ; metabolism ; physiology ; Epilepsy ; metabolism ; Globus Pallidus ; metabolism ; physiology ; Humans ; Parkinson Disease ; metabolism ; Presynaptic Terminals ; metabolism ; physiology ; Receptors, GABA ; physiology ; Receptors, GABA-A ; metabolism ; physiology ; Receptors, GABA-B ; metabolism ; physiology ; Synapses ; metabolism ; physiology ; gamma-Aminobutyric Acid ; metabolism

This study was conducted to investigate the metabolic changes in the motor and motor association cortices following axonal injury in the internal capsule that was caused by deep intracerebral hematoma. Using proton magnetic resonance spectroscopy (1H MRS), the authors studied the primary motor cortices (M-1) and sup-plementary motor areas (SMA) of 9 hemiparetic patients with documentable hemi-paresis of varying severity, and we studied 10 normal volunteers as controls. To measure the M-1 and SMA biochemical changes, 4 separate single volumes of inter-est(VOIs) were located bilaterally in the affected and unaffected hemisphere (AH and UH).1H MRS provided a neuronal and axonal viability index by measuring levels of N-acetylaspartate (NAA) and creatine/phosphocreatine (Cr). The M-1/SMA NAA/Cr ratios of the AH and UH in patients, and the AH and normal volunteers were com-pared. The NAA/Cr ratios of the M-1 and SMA in AH, and the SMA in UH were sig-nificantly lower than those of normal volunteers. These 1H MRS findings indicate that axonal injury in the descending motor pathway at the level of internal capsule could induce metabolic changes in the higher centers of the motor pathway.
Adult ; Aged ; Aged, 80 and over ; Aspartic Acid/*analogs & derivatives/metabolism ; Basal Ganglia Hemorrhage/metabolism/*pathology ; Creatine/metabolism ; Female ; Humans ; *Magnetic Resonance Spectroscopy ; Male ; Middle Aged ; Motor Cortex/metabolism/*pathology ; Paresis/metabolism/*pathology ; Phosphocreatine/metabolism ; Protons ; Pyramidal Tracts/metabolism/*pathology