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1.
Article in Chinese | WPRIM | ID: wpr-981759

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC).@*METHODS@#A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.@*RESULTS@#The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic.@*CONCLUSION@#The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.


Subject(s)
Male , Humans , Adolescent , Adult , Magnetic Resonance Imaging , Basal Ganglia/pathology , Cerebellum , Atrophy/pathology , Mutation , Tubulin/genetics
2.
Article in Chinese | WPRIM | ID: wpr-936138

ABSTRACT

OBJECTIVE@#To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis.@*METHODS@#The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma.@*RESULTS@#A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement.@*CONCLUSION@#The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.


Subject(s)
Child , Female , Humans , Male , Atrophy/pathology , Basal Ganglia/pathology , Biomarkers, Tumor , Brain Neoplasms/diagnostic imaging , Chorionic Gonadotropin, beta Subunit, Human , Germinoma/pathology , Magnetic Resonance Imaging , Neoplasms, Germ Cell and Embryonal , Retrospective Studies
3.
Rev. odontopediatr. latinoam ; 12(1): 421299, 2022. ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1426669

ABSTRACT

El Síndrome de Hallervorden-Spatz es una afección neurodegenerativa rara, autosómica recesiva, caracterizada por depósitos en gran cantidad de hierro en los ganglios de base, lo que ocasiona gran pérdida motora y mental. Presenta dos formas de manifestación: la clásica, que aparece en la infancia a lo largo de la primera década de vida, y la atípica, cuyas manifestaciones clínicas aparecen de forma tardía, entre la segunda y tercera décadas de vida. El objetivo del presente estudio es describir un caso clínico de tratamiento endodóntico, en ambulatorio, de una paciente del sexo femenino, de 28 años, con manifestaciones clásicas de dicho síndrome, con cambio de color en el elemento 11 y lesión periapical, que justifica la indicación de endodoncia. La atención odontológica de una enfermedad neurodegenerativa rara, realizada en forma ambulatoria, requiere el conocimiento del dentista para que se conduzca de forma eficiente y segura


A síndrome de Hallervorden-Spatz é uma afecção neurodegenerativa rara, autossômica recessiva, caracterizada por depósitos em grande quantidade de ferro nos gânglios de base, o que ocasiona grande perda motora e mental. Apresenta duas formas de manifestações: a clássica, que surge na infância na primeira década de vida; e a atípica, cujas manifestações clínicas surgem mais tardiamente, entre a segunda e terceira décadas de vida. O objetivo desse estudo foi descrever um caso clínico de tratamento endodôntico, ambulatorial, de uma paciente do sexo feminino, 28 anos, com manifestações clássicas da síndrome, apresentando mudança de cor no elemento 11 com lesão periapical, justificando a indicação para endodontia. O atendimento odontológico de uma doença neurodegenerativa rara; realizado em ambiente ambulatorial, requer o conhecimento do dentista para que seja conduzido de forma eficiente e segura.


Hallervorden-Spatz syndrome is a rare, autosomal recessive neurodegenerative disorder characterized by large deposits of iron in the basal ganglia, which causes great motor and mental loss. It presents two forms of manifestations: the classic, which arises in childhood in the first decade of life; and the atypical, whose clinical manifestations appear later, between the second and third decades of life. The objective of this study was to describe a clinical case of endodontic outpatient treatment of a female patient, 28 years old, with classic manifestations of the syndrome, showing color change in element 11 with periapical lesion, justifying the indication for endodontics. The dental care of a rare neurodegenerative disease in an outpatient setting requires the dental surgeon's knowledge so that it is conducted efficiently and safely.


Subject(s)
Humans , Female , Adult , Neurodegenerative Diseases , Pantothenate Kinase-Associated Neurodegeneration , Outpatients , Syndrome , Basal Ganglia , Dental Care , Endodontics
4.
Article in Chinese | WPRIM | ID: wpr-879908

ABSTRACT

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.


Subject(s)
Humans , Basal Ganglia , Basal Ganglia Diseases , Brain , Iron , Iron Metabolism Disorders/therapy
5.
Autops. Case Rep ; 11: e2021334, 2021. tab, graf
Article in English | LILACS | ID: biblio-1345352

ABSTRACT

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.


Subject(s)
Humans , Male , Infant , Leigh Disease/pathology , Autopsy , Basal Ganglia/abnormalities , Brain Damage, Chronic/pathology , Neurodegenerative Diseases , Diagnosis, Differential , Neurologic Manifestations
7.
Article in Tagalog | WPRIM | ID: wpr-886664

ABSTRACT

@#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.


Subject(s)
Chorea , Dyskinesias , Hyperglycemia , Basal Ganglia Diseases , Diabetes Mellitus, Type 2 , Basal Ganglia
8.
Article in Chinese | WPRIM | ID: wpr-826332

ABSTRACT

To compare the short-and long-term effect of two minimal invasive surgical therapies including keyhole approach endoscopic surgery(KAES)and stereotactic aspiration plus urokinase(SAU)in treating basal ganglia hypertensive intracerebral hemorrhage(hICH). The clinical data of 117 hICH patients(63 received KAES and 54 received SAU)were retrospectively analyzed.The operation time,blood loss during surgery,and drainage time were compared between two groups.The residual hematoma volume,hematoma clearance rate(HCR),Glasgow coma scale(GCS)score,and National Institute of Health Stroke Scale(NIHSS)score were recorded at baseline and in the ultra-early stage,early stage,and sub-early stage after surgery.The 30-day mortality and serious adverse events were assessed and the 6-month modified Rankin scale(mRS)score was rated. Baseline data showed no significant difference between these two groups.Compared with the SAU group,the KAES group had significantly longer operation time,more intraoperative blood loss,and shorter drainage time(all 0.05).In the ultra-early and early stage,the GCS and NIHSS scores showed no significant differences between two groups(all >0.05),whereas in the sub-early stage,the NIHSS score was better in the SAU group(=0.034).The 30-day mortality and incidences of serious adverse events showed no significant difference(all >0.05).The good recovery(mRS≤3)at 6-months follow-up showed no significant difference between the two groups(=0.413). Both KAES and SAU are safe and effective in treating basal ganglia hICH.In the ultra-early stage after surgery,KAES achieves better residual hematoma volume and HCR,and patients undergoing SAU quickly catch up.The short-and long-term effectiveness of SAU is comparable or even superior to KAES.


Subject(s)
Humans , Basal Ganglia , Intracranial Hemorrhage, Hypertensive , Retrospective Studies , Treatment Outcome , Urokinase-Type Plasminogen Activator
9.
Acta neurol. colomb ; 35(1): 30-35, ene.-mar. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-989195

ABSTRACT

RESUMEN El virus de Epstein Barr (VEB) infecta a cerca del 90 % de las personas en la primera década de vida y, como los demás herpes virus, se mantiene en estado de latencia con riesgo de reactivaciones posteriores. La infección por VEB puede tener un curso asintomático o causar mononucleosis infecciosa (MI), especialmente en adolescentes y adultos. Rara vez, es responsable de infecciones en el sistema nervioso central como encefalitis, cerebelitis, mielitis, neuritis, encefalomielitis aguda diseminada y, más comúnmente, en relación con la infección por el virus de inmunodeficiencia humana (VIH), relacionado con el linfoma primario del sistema nervioso central (SNQ. La encefalitis por VEB no difiere en su presentación clínica de las demás encefalitis virales. Su diagnóstico se realiza mediante detección serológica de anticuerpos de respuesta aguda contra el virus o por reacción en cadena de la polimerasa (PCR) en líquido cefalorraquídeo (LCR). Las opciones terapéuticas en el momento son limitadas y con una baja evidencia de efectividad. A continuación, se presenta el caso de una mujer adulta, inmunocompetente, con clínica de encefalitis aguda severa y marcadas anormalidades en las neuroimágenes. El diagnóstico se hizo mediante la detección de ADN viral en LCR, apoyado por la exclusión de otros agentes patógenos y otras posibles etiologías mediante estudios microbiológicos, patológicos y serológicos.


SUMMARY Epstein Barr virus (EBV) infects about 90 % of people in the first decade of life and, like other herpes viruses, remains dormant with risk of subsequent reactivations. EBV infection can have an asymptomatic course or cause infectious mononucleosis (IM), especially in teenagers and adults. Rarely, it can be responsible for infections in the central nervous system such as encephalitis, cerebellitis, myelitis, neuritis, acute disseminated encephalomyelitis and, more commonly, primary lymphoma of the central nervous system (PLCNS) related to infection by human immunodeficiency virus (HIV). VEB encephalitis does not differ from other viral encephalitis in its clinical presentation. Its diagnosis is performed by serological detection of acute antibody response against the virus or by polymerase chain reaction (PCR) in cerebrospinal fluid (CSF). Treatment options are limited and with a low evidence of effectiveness. We report an unusual case of an immunocompetent mid adult woman, who presented clinically severe acute encephalitis and marked abnormalities in neuroimaging. The diagnosis was made by EBV DNA detection in CSF, supported by the exclusion of the presence of other pathogens and etiologies by microbiological and pathological studies.


Subject(s)
Basal Ganglia , Polymerase Chain Reaction , Herpesvirus 4, Human , Epstein-Barr Virus Infections , Encephalitis
10.
Article in Chinese | WPRIM | ID: wpr-774072

ABSTRACT

OBJECTIVE@#To summarize and analyze the etiology, clinical manifestations and imaging features of children with cerebral infarction.@*METHODS@#A retrospective analysis was performed for the clinical data of 54 children with cerebral infarction, including etiology, clinical manifestations, distribution of infarcts, type of infarcts and clinical outcome.@*RESULTS@#Of the 54 children, 93% had a clear cause, among whom 46% had the coexistence of multiple factors, and the top three causes were infection (54%), vascular disease (40%) and trauma (26%). Major clinical manifestations included limb paralysis (85%), pyrexia (20%), disturbance of consciousness (19%) and convulsion (17%). As for the location of infarcts, 80% of the infarcts were located in the cerebral cortex and 52% in the basal ganglia. Major types of infarcts were small-area infarcts (74%) and multifocal infarcts (56%). Viral encephalitis was the most common cause of cerebral infarction caused by infection, with the cerebral cortex as the most common location of infarcts (21/23, 91%) and multiple infarcts as the most common type of infarcts (13/23, 57%). Among the 12 children with cerebral infarction caused by nonspecific endarteritis, 10 (83%) had infarcts located in the basal ganglia and only one child had multiple infarcts. Among the five children with cerebral infarction caused by moyamoya disease, four children (80%) had infarcts located in the cerebral cortex, and large-area infarction (4/5, 80%) and multifocal infarction (4/5, 80%) were the major types of infarcts. Among the children with traumatic cerebral infarcts, 92% had infarcts located in the basal ganglia, and small-area infarcts (92%) and single infarcts (85%) were the major types of infarcts. Among the 46 children with limb paralysis, 34 (74%) had infarcts located in the basal ganglia; 50% of the children with disturbance of consciousness had infarcts located in the basal ganglia. Subcortical infarcts were observed in all six children with epilepsy. Seventy-five percent of the infarcts located in the cerebral cortex and 87% of the infarcts located in the basal ganglia had a good prognosis. Among the two children with cerebral infarcts located in the brainstem, one had the sequela of hemiplegia and the other had the sequela of cognitive impairment. Eighty-eight percent of the children with cerebral infarction caused by infection and 82% of the children with traumatic cerebral infarction tended to have a good prognosis, and 83% of the children with cerebral infarction caused by nonspecific endarteritis had good prognosis. Recurrence was observed in all three children with cerebral infarction caused by vascular malformations. Of the five children with cerebral infarction caused by moyamoya disease, one child died and four children survived with the sequela of localized brain atrophy, among whom one child also had the sequela of epilepsy.@*CONCLUSIONS@#Infection, vascular disease and trauma are the most common causes of cerebral infarction in children, and limb paralysis is the most common clinical manifestation. Cerebral cortex is the most common infarct site, and small-area infarcts and multifocal infarcts are the most common types of infarcts, which tend to have a better prognosis.


Subject(s)
Child , Humans , Basal Ganglia , Cerebral Cortex , Cerebral Infarction , Magnetic Resonance Imaging , Recurrence , Retrospective Studies
11.
Article in English | WPRIM | ID: wpr-762622

ABSTRACT

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.


Subject(s)
Aged , Female , Humans , Basal Ganglia , Brain , Cerebral Hemorrhage , Gait , Hypertension , Hypoparathyroidism , Incidence , Intracranial Hemorrhage, Hypertensive , Intracranial Hemorrhages , Nervous System Diseases , Visual Fields
12.
Article in English | WPRIM | ID: wpr-762632

ABSTRACT

OBJECTIVE: To investigate association between lesion location on magnetic resonance imaging (MRI) performed after an infarction and the duration of dysphagia in middle cerebral artery (MCA) infarction. METHODS: A videofluoroscopic swallowing study was performed for 59 patients with dysphagia who were diagnosed as cerebral infarction of the MCA territory confirmed by brain MRI. Lesions were divided into 11 regions of interest: primary somatosensory cortex, primary motor cortex, supplementary motor cortex, anterior cingulate cortex, orbitofrontal cortex, parieto-occipital cortex, insular cortex, posterior limb of the internal capsule (PLIC), thalamus, basal ganglia (caudate nucleus), and basal ganglia (putamen). Recovery time was defined as the period from the first day of L-tube feeding to the day that rice porridge with thickening agent was prescribed. Recovery time and brain lesion patterns were compared and analyzed. RESULTS: The mean recovery time of all patients was 26.71±16.39 days. The mean recovery time was 36.65±15.83 days in patients with PLIC lesions and 32.6±17.27 days in patients with caudate nucleus lesions. Only these two groups showed longer recovery time than the average recovery time for all patients. One-way analysis of variance for recovery time showed significant differences between patients with and without lesions in PLIC and caudate (p<0.001). CONCLUSION: Injury to both PLIC and caudate nucleus is associated with longer recovery time from dysphagia.


Subject(s)
Humans , Basal Ganglia , Brain , Caudate Nucleus , Cerebral Cortex , Cerebral Infarction , Deglutition , Deglutition Disorders , Extremities , Gyrus Cinguli , Infarction , Infarction, Middle Cerebral Artery , Internal Capsule , Magnetic Resonance Imaging , Middle Cerebral Artery , Motor Cortex , Prefrontal Cortex , Somatosensory Cortex , Thalamus
14.
Article in English | WPRIM | ID: wpr-764168

ABSTRACT

Hyperglycemia-induced hemichorea (HGHC) is a rare but characteristic hyperkinetic movement disorder involving limbs on one side of the body. In a 75-year-old woman with a left-sided HGHC, conventional brain MR imaging showed very subtle T1-hyperintensity and unique gadolinium enhancement in the basal ganglia contralateral to movements. Multi-parametric MRI was acquired using pulse sequence with quantification of relaxation times and proton density by multi-echo acquisition. Myelin map was reconstructed based on new tissue classification modeling. In this case report of multi-parametric MRI, quantitative measurement of myelin change related to HGHC in brain structures and its possible explanations are presented. This is the first study to demonstrate myelin loss related to hyperglycemic insult in multi-parametric quantitative MR imaging.


Subject(s)
Aged , Female , Humans , Basal Ganglia , Brain , Classification , Extremities , Gadolinium , Hyperglycemia , Hyperkinesis , Magnetic Resonance Imaging , Movement Disorders , Myelin Sheath , Protons , Relaxation
15.
Article in English | WPRIM | ID: wpr-764374

ABSTRACT

BACKGROUND AND PURPOSE: Various features of the cerebral cortex and white matter have been extensively investigated in migraine with aura (MwA), but the morphological characteristics of subcortical structures have been largely neglected. The aim of this study was to identify possible differences in subcortical structures between MwA patients and healthy subjects (HS), and also to determine the correlations between the characteristics of migraine aura and the volumes of subcortical structures. METHODS: Thirty-two MwA patients and 32 HS matched by sex and age were analyzed in this study. Regional subcortical brain volumes were automatically calculated using the FSL/FMRIB Image Registration and Segmentation Tool software (https://fsl.fmrib.ox.ac.uk/fsl/fslwiki/Glossary). A general linear model analysis was used to investigate differences in the volume of subcortical structures between the MwA patients and HS. A partial correlation test was used to assess correlations between the volume of subcortical structures and characteristics of MwA. RESULTS: The volumes of the right globus pallidus, left globus pallidus, and left putamen were significantly smaller in MwA patients than in HS (mean±SD): 1,427±135 mm³ vs. 1,557±136 mm³ (p<0.001), 1,436±126 mm³ vs. 1,550±139 mm³ (p=0.001), and 4,235±437 mm³ vs. 4,522±412 mm³ (p=0.006), respectively. There were no significant relationships between subcortical structures and clinical parameters. CONCLUSIONS: These findings suggest that both the globus pallidi and left putamen play significant roles in the pathophysiology of the MwA. Future studies should determine the cause-and-effect relationships, since these could not be discriminated in this study due to its cross-sectional design.


Subject(s)
Humans , Basal Ganglia , Brain , Cerebral Cortex , Epilepsy , Globus Pallidus , Healthy Volunteers , Linear Models , Migraine Disorders , Migraine with Aura , Putamen , White Matter
16.
Article in English | WPRIM | ID: wpr-764376

ABSTRACT

BACKGROUND AND PURPOSE: Neurological involvement in Behçet's disease [neuro-Behçet's disease (NBD)] is uncommon, but it is worth investigating since it can cause substantial disability. However, difficulties exist in understanding the clinical features of NBD due to regional variations and the lack of studies utilizing well-established diagnostic criteria. We therefore analyzed the clinical features of patients with NBD based on the recent international consensus recommendation. METHODS: We retrospectively searched electronic databases for patients with Behçet's disease (BD) between 2000 and 2017, and reviewed their medical records. Based on the recent international consensus recommendation, patients with definite or probable NBD were included. RESULTS: Of 9,817 patients with the diagnosis code for BD, 1,682 (17.1%) visited the neurology clinic and 110 (1.1%) were classified as NBD. Ninety-eight patients exhibited parenchymal NBD and 12 exhibited nonparenchymal NBD. Their age at the onset of NBD was 37.6±10.6 years and the male-to-female ratio was 1.24:1. Brainstem syndrome (43.9%) was the most common condition in the 98 patients with parenchymal NBD, followed by multifocal (32.7%) and spinal cord (12.2%) syndromes. 72.4% exhibited acute NBD and 27.6% exhibited a progressive disease course. Frequent manifestations included pyramidal signs (52.0%), headache (45.9%), dysarthria (42.9%), and fever (31.6%). A frequent pattern in brain MRI was an upper brainstem lesion extending to the thalamus and basal ganglia. CONCLUSIONS: Approximately 1% of the patients with suspected BD exhibited NBD. Neurologists must understand the clinical characteristics of NBD in order to perform the differential diagnosis and management of these patients.


Subject(s)
Humans , Basal Ganglia , Brain , Brain Stem , Classification , Consensus , Diagnosis , Diagnosis, Differential , Dysarthria , Fever , Headache , Korea , Magnetic Resonance Imaging , Medical Records , Neurology , Retrospective Studies , Spinal Cord , Thalamus
17.
Article in English | WPRIM | ID: wpr-765337

ABSTRACT

OBJECTIVE: Globus pallidus interna (GPi) is acknowledged as an essential treatment for advanced Parkinson’s disease (PD). Nonetheless, the neurotransmitter study about its results is undiscovered. The goal of this research was to examine influences of entopeduncular nucleus (EPN) stimulation, identical to human GPi, in no-lesioned (NL) rat and 6-hydroxydopamine (6-HD)-lesioned rat on glutamate change in the striatum. METHODS: Extracellular glutamate level changes in striatum of NL category, NL with deep brain stimulation (DBS) category, 6-HD category, and 6-HD with DBS category were examined using microdialysis and high-pressure liquid chromatography. Tyrosine hydroxylase (TH) immunoreactivities in substantia nigra and striatum of the four categories were also analyzed. RESULTS: Extracellular glutamate levels in the striatum of NL with DBS category and 6-HD with DBS category were significantly increased by EPN stimulation compared to those in the NL category and 6-HD category. EPN stimulation had no significant effect on the expression of TH in NL or 6-HD category. CONCLUSION: Clinical results of GPi DBS are not only limited to direct inhibitory outflow to thalamus. They also include extensive alteration within basal ganglia.


Subject(s)
Animals , Humans , Rats , Basal Ganglia , Chromatography, Liquid , Deep Brain Stimulation , Entopeduncular Nucleus , Globus Pallidus , Glutamates , Glutamic Acid , Microdialysis , Neurotransmitter Agents , Oxidopamine , Parkinson Disease , Substantia Nigra , Thalamus , Tyrosine 3-Monooxygenase
18.
Article in English | WPRIM | ID: wpr-739330

ABSTRACT

Despite the low incidence, seizures induced by repetitive transcranial magnetic stimulation (rTMS) have been studied as they may cause neurological and functional regression. Seizures may predict poor outcomes in stroke patients, with no reports of improved neurological status after seizures. This is the first Korean report of a seizure induced by rTMS, and the first report in the literature of prompt motor recovery following a seizure induced by high-frequency rTMS of the primary motor cortex in a stroke patient. A 43-year-old man with left hemiplegia due to infarction in the right basal ganglia was enrolled 10 sessions of rTMS (each session consisted of 15 trains, with each train consisting of 5 seconds of stimulation at 20 Hz and 90% of resting motor threshold for each session followed by 55 seconds of rest). The self-limited seizure occurred within 5 seconds after the 10th session. It lasted for 60 seconds, with generalized tonic features in all four extremities and the trunk and loss of consciousness followed by prompt improvement in left hand muscle strength and coordination. Though the seizure is known to usually cause neurologic regression, this case showed neurologic improvement after rTMS even after the rTMS-induced seizure.


Subject(s)
Adult , Humans , Basal Ganglia , Extremities , Hand , Hemiplegia , Incidence , Infarction , Motor Cortex , Muscle Strength , Seizures , Stroke , Transcranial Magnetic Stimulation , Unconsciousness
19.
Experimental Neurobiology ; : 300-310, 2019.
Article in English | WPRIM | ID: wpr-739536

ABSTRACT

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.


Subject(s)
Animals , Mice , Basal Ganglia , Biomarkers , Brain , Deep Brain Stimulation , Diffusion Tensor Imaging , Diffusion , Magnetic Resonance Imaging , Neurodegenerative Diseases , White Matter
20.
Article in English | WPRIM | ID: wpr-766405

ABSTRACT

OBJECTIVE: Dysphagia is a common consequence of stroke with a negative effect on the clinical outcome. Given these potential outcomes, it is important to identify the precursors to dysphagia after stroke. The aims of this study were to identify lesions associated with dysphagia after an ischemic supratentorial stroke using voxel-based lesion symptom mapping (VLSM) and compare the difference in the lesion pattern between the oral and pharyngeal phase dysphagia. METHODS: Stroke patients who met the following inclusion criteria were screened retrospectively between January 2012 and November 2014: a first-ever stroke, supratentorial lesion and who underwent brain MRI and functional dysphagia scale (FDS) from videofluoroscopic swallowing study (VFSS). Finally, the MRI data of 83 patients were analyzed. Statistical maps of the lesion contribution related to dysphagia were generated using VLSM. RESULTS: VLSM showed that FDS was associated with damage to the putamen, caudate, insula, frontal precentral gyrus, and inferior frontal gyrus. The lesions were distributed more widely in the left than right hemisphere. Lesions correlated with the FDS oral score were distributed mainly in the frontal lobe and insula. Otherwise, the associated lesion with the FDS pharyngeal score was mainly the basal ganglia. CONCLUSION: In these results, lesions that correlated with dysphagia were distributed more widely in the left hemisphere, reflecting the possibility of lateralization of the swallowing function. Oral phase dysphagia was associated with left frontal lobe and insula; the lesion correlated with the cognitive function or apraxia. On the other hand, VLSM revealed the lesions associated with pharyngeal dysphagia to be the basal ganglia, which is a structure that plays a role in the automatic motor control network.


Subject(s)
Humans , Apraxias , Basal Ganglia , Brain , Brain Mapping , Cognition , Deglutition , Deglutition Disorders , Frontal Lobe , Hand , Magnetic Resonance Imaging , Neuroanatomy , Prefrontal Cortex , Putamen , Retrospective Studies , Stroke
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