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*

INTRODUCTION: Nonketotic hyperglycemia among type 2 diabetic patients have recently been documented to cause the rare movement disorder called Hemichorea-hemiballism syndrome which is a hyperkinetic movement disorder presenting as a continuous, non-patterned, involuntary movements caused by a basal ganglia dysfunction. METHODS: A 76-year-old male with a known history of hypertension and no history of stroke and diabetes presented with a 10-day history of increasingly persistent involuntary movements of the right extremities. On admission, the patient was conscious with stable vital signs and unremarkable neurologic findings except for the involuntary flailing movements of the right extremities. Diagnostic testing revealed first documentation of hyperglycemia with brain MRI changes on T1 hyperintensity signals on the basal ganglia and T2/FLAIR weighted imaging showing mixed hypointense and hyperintense signals which is a classical MRI finding in patients with HC-HB syndrome caused by nonketotic hyperglycemia. The patient was treated for diabetes and was maintained on anti-dopaminergic medications for the uncontrollable involuntary movements. After five months, resolution of the hemiballism-hemichorea syndrome was noted after appropriate treatment. CONCLUSION: This case report highlights hemichoreahemiballism syndrome in a newly diagnosed type 2 diabetic patient who had normal glucose levels at presentation. The prompt recognition and correction of uncontrolled newly diagnosed diabetes and administration of anti-dopamine agents lead to a rapid improvement of symptoms, less neurologic sequelae and an overall favorable prognosis.
Chorea ; Dyskinesias ; Hyperglycemia ; Basal Ganglia Diseases ; Diabetes Mellitus, Type 2 ; Basal Ganglia

Fahr's disease (FD) is a rare neurologic disorder characterized by the symmetric and bilateral intracerebral calcification in a patient. We describe the case of a 65-year-old woman who presented with gait disturbance, abnormal mentality, and visual field defect. The result of a brain computerized tomography showed spontaneous intracranial hemorrhage in the right parieto-occipital area, and also showed the incidence of symmetric and bilateral intracerebral calcification. Moreover, laboratory studies indicated characteristic hypoparathyroidism. This brings us to understand that additionally, one of her sons also presented with similar intracerebral calcification, and was subsequently diagnosed with FD. Thus, her case was consistent with that of a patient experiencing FD. The patient had hypertension, which we now know might have caused the intracerebral hemorrhage. However, this patient's brain lesions were in uncommon locations for spontaneous intracerebral hemorrhage, and the lesions were noted as occurring away from the identified heavily calcified areas. Thus, it seemed that the massive calcification of cerebral vessels in the basal ganglia, the most common site of intracerebral hemorrhage, might have prevented a hypertensive intracerebral hemorrhage. Eventually, an intracerebral hemorrhage occurred in an uncommon location in the patient's brain.
Aged ; Basal Ganglia ; Brain ; Cerebral Hemorrhage ; Female ; Gait ; Humans ; Hypertension ; Hypoparathyroidism ; Incidence ; Intracranial Hemorrhage, Hypertensive ; Intracranial Hemorrhages ; Nervous System Diseases ; Visual Fields

Posterior reversible encephalopathy syndrome (PRES) is characterized by neurotoxic symptoms and neuroimaging finding of reversible cerebral edema in association with various conditions including hypertension, eclampsia, and autoimmune diseases. The author experienced a 47-year-old woman with systemic lupus erythematosus and systemic sclerosis overlap syndrome who developed PRES. The patient presented with alteration of consciousness in association with hypertension and increased autoimmune activity. Magnetic resonance imaging revealed vasogenic edema in the bilateral cerebral cortex, subcortical white matter, basal ganglia, brainstem, and cerebellum.
Autoimmune Diseases ; Basal Ganglia ; Brain Edema ; Brain Stem ; Cerebellum ; Cerebral Cortex ; Consciousness ; Eclampsia ; Edema ; Female ; Humans ; Hypertension ; Lupus Erythematosus, Systemic ; Magnetic Resonance Imaging ; Middle Aged ; Neuroimaging ; Posterior Leukoencephalopathy Syndrome ; Pregnancy ; Scleroderma, Systemic ; White Matter

The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G>A(p.G317E) and c.962C>T(p.A321V), were found in the patient. Further study showed that c.950G>A was inherited from his father and c.962C>T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.
Basal Ganglia Diseases ; Crying ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Membrane Transport Proteins ; Thiamine

Over the years, diffusion tractography has seen increasing use for comparing minute differences in connectivity of brain structures in neurodegenerative diseases and treatments. Studies on connectivity between basal ganglia has been a focal point for studying the effects of diseases such as Parkinson's and Alzheimer's, as well as the effects of treatments such as deep brain stimulation. Additionally, in previous studies, diffusion tractography was utilized in disease mouse models to identify white matter alterations, as well as biomarkers that occur in the progression of disease. However, despite the extensive use of mouse models to study model diseases, the structural connectivity of the mouse basal ganglia has been inadequately explored. In this study, we present the methodology of segmenting the basal ganglia of a mouse brain, then generating diffusion tractography between the segmented basal ganglia structures. Additionally, we compare the relative levels of connectivity of connecting fibers between each basal ganglia structure, as well as visualize the shapes of each connection. We believe that our results and future studies utilizing diffusion tractography will be beneficial for properly assessing some of the connectivity changes that are found in the basal ganglia of various mouse models.
Animals ; Basal Ganglia ; Biomarkers ; Brain ; Deep Brain Stimulation ; Diffusion Tensor Imaging ; Diffusion ; Magnetic Resonance Imaging ; Mice ; Neurodegenerative Diseases ; White Matter

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Ataxia ; Atrophy ; Basal Ganglia ; Leukoencephalopathies ; Magnetic Resonance Imaging ; MELAS Syndrome ; Mitochondrial Diseases ; Retinitis Pigmentosa

BackgroundIdiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients.

MethodsClinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype.

ResultsA novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we found that SLC20A2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1 and 8 exons; the second common one is PDGFB where the hot spot covered a length of 220-230 bp localized on the 2 exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries.

ConclusionsThere is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.

Asian Continental Ancestry Group ; Basal Ganglia Diseases ; genetics ; Calcinosis ; genetics ; Exons ; genetics ; Female ; Genetic Association Studies ; Humans ; Male ; Mutation ; genetics ; Neurodegenerative Diseases ; genetics ; Pedigree ; Phenotype ; Sodium-Phosphate Cotransporter Proteins, Type III ; genetics

Osmotic demyelination syndrome (ODS) is a demyelinating disorder related to the rapid correction of hyponatremia. It usually affects the pontine area; hence, the name central pontine myelinolysis (CPM). However, it rarely occurs with the correction of hypernatremia and hyperosmolarity and involves extrapontine areas. A 56-year-old chronic alcoholic had been admitted with a history of confusion. He had been in alcohol withdrawal for 4 days. Laboratory examinations showed severe hypernatremia and hyperosmolarity. After serum sodium level was normalized; however, his clinical course did not improve and deteriorated to semicoma progressively. Magnetic resonance imaging (MRI) revealed abnormal signal intensity in the pontine and extrapontine areas, including the basal ganglia, thalamus, and cerebral cortices. This is the first case report of combined central pontine and extrapontine demyelination after alcohol withdrawal and correction of hypernatremia in a chronic alcoholic.
Alcoholics* ; Basal Ganglia ; Cerebral Cortex ; Demyelinating Diseases ; Humans ; Hypernatremia* ; Hyponatremia ; Magnetic Resonance Imaging ; Middle Aged ; Myelinolysis, Central Pontine* ; Sodium ; Thalamus

No abstract available.
Basal Ganglia Diseases/diagnostic imaging/drug therapy/*etiology ; Calcinosis/diagnostic imaging/drug therapy/*etiology ; Calcium/therapeutic use ; Dietary Supplements ; Female ; Humans ; Hypoparathyroidism/*complications/diagnosis/drug therapy ; Middle Aged ; Tomography, X-Ray Computed ; Treatment Outcome ; Vitamin D/therapeutic use