TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations.

Objective: We aimed to explore the potential causative gene for PKD.

Observation on the changes of clinical symptoms, blood and brain copper deposition in Wilson disease patients treated with dimercaptosuccinic acid for 2 years.

Objective: To compare the clinical symptoms, brain copper deposition changes of Meso-2,3-dimercaptosuccinic acid (DMSA) and penicillamine therapy in patients with Wilson disease (WD) within 2 years.

Methods: 68 drug-naive patients with WD were enrolled. 10 WD patients treated with zinc gluconate alone were used as the control group.

Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease.

Background: Machado-Joseph disease is the most common autosomal dominant hereditary ataxia worldwide without effective treatment. Mesenchymal stem cells (MSCs) could slow the disease progression, but side effects limited their clinical application. Besides, MSC-derived exosomes exerted similar efficacy and have many advantages over MSCs.

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Background: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor.

Objectives: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy.

A study of susceptibility-weighted imaging in patients with Wilson disease during the treatment of metal chelator.

Objective: A randomized-controlled trial comparing study of the changes in brain sensitive-weighted imaging (SWI) of Wilson disease (WD) patients during the treatment with metal chelator was done.

Methods: 100 untreated WD patients (80 cases of cerebral type, 20 cases of hepatic type, age 20.13 ± 9.

Injury factors and pathological features of toxic milk mice during different disease stages.

Objective: To evaluate different injury factors and pathological characteristics of the brain at different disease stages in toxic milk (TX) mice, an animal model of Wilson's disease (WD).

Methods: Thirty TX mice (10 each at 3, 6 and 12 months old) and 30 age-matched C57 mice were used in this study. Corrected phase (CP) values were determined from susceptibility-weighted images.

Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression.

Aims: To detect specific oculomotor deficits in preclinical stage of spinocerebellar ataxia type 3 (SCA3) and evaluate whether these abnormalities prove useful as potential biomarkers of disease progression.

Methods: A Chinese cohort of 56 patients with SCA3, including 12 preclinical carriers of SCA3 (pre-SCA3) and 44 manifest SCA3, and 26 healthy control individuals were recruited. We performed a detailed investigation on central oculomotor performance including fixation, gaze, smooth pursuit, prosaccade, and antisaccade using video-oculography.

Diffusion tensor imaging of the extracorticospinal network in the brains of patients with Wilson disease.

Objective: To evaluate damage to the extracorticospinal tract in Wilson disease (WD) patients using diffusion tensor imaging (DTI).

Methods: 70 patients with WD, including 50 with cerebral type and 20 with hepatic type, and 20 age-matched healthy controls were enrolled. Neurological symptoms were scored using the modified Young Scale.

Effects of tetrathiomolybdate and penicillamine on brain hydroxyl radical and free copper levels: a microdialysis study in vivo.

Wilson disease is an inherited disorder of excessive copper accumulation. The commonly used drug d-penicillamine (PA) or trientine both cause a high incidence (10-50%) of neurological worsening, which rarely occurs with tetrathiomolybdate (TM) treatment. To investigate the mechanisms of neurologic deterioration after the initiation of chelation therapy, brain hydroxyl radical and free copper were assessed in vivo in this study.

Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging.

Aims: The aim of this study was to evaluate the feasibility of characterizing the brain-mineral deposition in patients with Wilson disease (WD) using susceptibility-weighted imaging (SWI).

Materials And Methods: The study enrolled 30 WD patients and 20 age-matched healthy controls. Neurological symptoms were scored using the modified Young Scale.

Cognitive impairment in native Chinese with spinocerebellar ataxia type 3.

Background: Previous studies have shown cognitive impairment in patients with spinocerebellar ataxia type 3 (SCA3). However, there is a lack of data on Chinese patients with SCA3.

Method: We investigated 22 native Chinese with SCA3 and 18 controls matched for age, education as well as mental status.

Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice.

Wilson disease (WD) is characterized by the accumulation of copper arising from a mutation in the ATP7B gene. Penicillamine (PA) makes 10-50% of the patients with neurologic symptoms neurologically worse at the early stage of administration. The aim of this study was to determine how the copper metabolism changes and whether the change impairs the brain of toxic milk (tx) mice, an animal model of WD, during the PA administration.

[Values of serum copper and serum free copper in the diagnosis and monitoring of Wilson's disease and its carriers].

Objective: To explore the values of serum copper and serum free copper in the diagnosis of Wilson's disease (WD), its carrier and viral hepatitis and explore the guiding significance of monitoring serum copper in the treatment of WD.

Methods: A total of 80 WD patients (hepatic type, n = 60; encephalic type, n = 20), 30 carriers, 20 patients with viral hepatitis were enrolled and their levels of serum copper were determined. The neural symptoms were scored by modified Young grade.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been identified. Here, we identified proline-rich transmembrane protein 2 (PRRT2) as a causative gene of paroxysmal kinesigenic dyskinesias by using a combination of exome sequencing and linkage analysis.

[Recent advances of genetic research on paroxysmal kinesigenic dyskinesias].

Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is one of the most common types of praoxysmal dyskinesia. It is characterized by recurrent episodic dystonia and/or choreoathetotic attacks triggered by sudden voluntary movement. Some patients have a history of febrile infantile convulsion.

[Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: report of 5 cases].

Objective: To study the clinical and molecular genetic characteristics of spinal bulbar muscular atrophy (SBMA).

Methods: The clinical data, including case history, physical examination, biochemical analyses of blood, EMG, and muscle biopsy, of 5 Chinese patients with SBMA, all males, aged 29 - 58, with the onset age of 36 (17 - 49), were collected the information of in 5 cases. Four patients underwent PCR to examine the number of copies of CAG repeat region in androgen receptor (AR) gene.

[Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias].

Objective: To study the strategy of applying molecular genetic methods and techniques in the diagnosis of spinocerebellar ataxias (SCA).

Methods: This study included 43 patients with SCA from 36 families, 38 sporadic SCA patients, 60 healthy individuals from the SCA families and 44 normal controls. The trinucleotide repeats were detected by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining technique.

[Molecular genetic diagnosis and clinical analysis of spinocerebellar ataxia type 7].

Objective: To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 7 (SCA7).

Methods: This study included 43 patients with autosomal dominant SCA from 36 families, 38 sporadic SCA patients, 60 healthy individuals from the SCA families and 44 normal controls without family SCA history. The SCA7 (CAG)n mutations were detected by PCR, denaturing polyacrylamide gel electrophoresis and silver staining technique.