Humans ; Huntington Disease/diagnostic imaging* ; Brain/diagnostic imaging* ; Brain Mapping ; Magnetic Resonance Imaging

Systemic lupus erythematosus combined with chorea is relatively rare in China,and there are no unified diagnostic criteria or specific ancillary tests.Therefore,it is confirmed by exclusionary clinical diagnosis.To improve the understanding of this disease among rheumatologists,we report the clinical data of a patient with systemic lupus erythematosus combined with chorea admitted to the Department of Rheumatology and Immunology in the First Affiliated Hospital of Jinan University in January 2022.Furthermore,we review the relevant literature in the past 10 years and summarize the clinical features of these cases.
Humans ; Chorea/diagnosis* ; Lupus Erythematosus, Systemic/complications* ; China ; Hospitalization ; Hospitals

Huntington's disease (HD) is an autosomal dominantly-inherited neurodegenerative disease, which is caused by CAG trinucleotide expansion in exon 1 of the Huntingtin (HTT) gene. Although HD is a rare disease, its monogenic nature makes it an ideal model in which to understand pathogenic mechanisms and to develop therapeutic strategies for neurodegenerative diseases. Clustered regularly-interspaced short palindromic repeats (CRISPR) is the latest technology for genome editing. Being simple to use and highly efficient, CRISPR-based genome-editing tools are rapidly gaining popularity in biomedical research and opening up new avenues for disease treatment. Here, we review the development of CRISPR-based genome-editing tools and their applications in HD research to offer a translational perspective on advancing the genome-editing technology to HD treatment.
Humans ; Gene Editing ; Huntington Disease/therapy* ; CRISPR-Cas Systems/genetics* ; Neurodegenerative Diseases

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.
Athetosis/genetics* ; Chorea ; Congenital Hypothyroidism/genetics* ; Cough ; Humans ; Male ; Respiratory Distress Syndrome, Newborn ; Thyroid Nuclear Factor 1/genetics*

Chorea/etiology* ; Humans ; Lupus Erythematosus, Systemic/diagnosis* ; Phototherapy

OBJECTIVE: To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them. METHODS: Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. Pre-symptomatic testing was offered to their children and relatives, and prenatal diagnosis was provided to three pregnant women from the two pedigrees. RESULTS: The two probands, in addition with three asymptomatic members, were found to have a (CAG)n repeat number greater than 40. Upon prenatal diagnosis, the numbers of CAG repeats in two fetuses from pedigree 1 were determined as (16, 19) and (18, 19), both were within the normal range. A fetus from pedigree 2 was found to have a CAG repeat number of (15, 41), which exceeded the normal range. CONCLUSION Genetic testing can facilitate the diagnosis of Huntington disease and avoid further birth of affected children.
Child ; Female ; Genetic Testing ; Humans ; Huntington Disease/genetics* ; Nerve Tissue Proteins/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis

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

Deep brain stimulation (DBS) of the zona incerta has shown promising results in the reduction of medically refractory movement disorders. However, evidence supporting its efficacy in movement disorders secondary to hemorrhagic stroke or hemichoreoathetosis is limited. We describe a 48-year-old man who developed progressive hemichoreoathetosis with an arrhythmic, proximal tremor in his right arm following a thalamic hemorrhagic stroke. Pharmacological treatment was carried out with no change in the Abnormal Involuntary Movement Scale (AIMS) score after 4 weeks (14). After six sessions of botulinum toxin treatment, a subtle improvement in the AIMS score (13) was registered, but no clinical improvement was noted. The arrhythmic proximal movements were significantly improved after DBS of the zona incerta with a major decrease in the patient’s AIMS score (8). The response to DBS occurring after the failure of pharmacological and botulinum toxin treatments suggests that zona incerta DBS may be an alternative for postthalamic hemorrhage movement disorders.
Abnormal Involuntary Movement Scale ; Arm ; Botulinum Toxins ; Chorea ; Deep Brain Stimulation ; Hemorrhage ; Herpes Zoster ; Humans ; Middle Aged ; Movement Disorders ; Stroke ; Tremor ; Zona Incerta

No abstract available.
Chorea ; Paraneoplastic Syndromes ; Small Cell Lung Carcinoma

Animals ; Animals, Genetically Modified ; Disease Models, Animal ; Genetic Techniques ; Huntingtin Protein ; genetics ; Huntington Disease ; genetics ; Swine ; Swine, Miniature