Background: Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodystrophy, which is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. To date, only one study has reported the demyelinating peripheral neuropathy phenotype caused by heterozygous POLR3B variants.
View Article and Find Full Text PDFZhongguo Ying Yong Sheng Li Xue Za Zhi
November 2019
Zhongguo Ying Yong Sheng Li Xue Za Zhi
March 2015
Objective: To evaluate the small fiber function in patients with type 2 diabetes mellitus of the early stage by measuring the sensory threshold with the quantitative temperature testing technology.
Methods: Twenty cases of patients with type 2 diabetes with no neurological deficit (DM group) and twenty age and sex-matched healthy controls underwent the detecting of cold sensory threshold (CST), warm sensory threshold (WST), cold pain threshold (CPT), heat pain threshold (HPT) in both inside of their hands.
Results: There was no significant difference in CST, WST, CPT and HPT between left and right inside of hand of the same sample among all the testers.
Am J Med Genet B Neuropsychiatr Genet
October 2015
Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.
View Article and Find Full Text PDFZhejiang Da Xue Xue Bao Yi Xue Ban
November 2011
Objective: To investigate the variability of event-related potentials P(300) and the relationship with memory function/psychopathology in patients with first-episode paranoid schizophrenia.
Methods: Thirty patients with first-episode paranoid schizophrenia (patient group) and twenty health subjects (control group) were enrolled in the study. The auditory event-related potentials P₃₀₀ at the scalp electrodes Cz, Pz and Wechsler Memory Scale (WMS) were examined in both groups, Positive And Negative Syndrome Scale (PANSS) was evaluated in patient group.
Zhejiang Da Xue Xue Bao Yi Xue Ban
September 2008
Objective: To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.
Methods: The proband and available family members were identified by neurological examination. The clinical manifestation of 8 patients (including the proband) was analyzed; the electromyographic data of 5 patients were compared with 6 other family members.
Zhongguo Ying Yong Sheng Li Xue Za Zhi
November 2007
Aim: To learn the condition of the memory and the visual space of the patient who has suffered from the infarction in basal ganglia region, and to analyze its impact on and the characteristics of the patients' cognition.
Methods: By testing respectively on 21 subjects who were initially infarcted in basal ganglia with single focus on one side, and 21 healthy volunteers with corresponding age, gender and educational background with Rey-Osterrieth Complex Figure Scale (Rey), Clinical Memory Scale (CMS), Hospital Anxiety-Depression Scale (HAD), National Institute of Health Stroke Scale (NIHSS), Oxford Handicap Scale (OHS), Barthel Index (BI), and Aural Event Related Evoked Potential (AERP) as well.
Results: Compared with the control group, the patient group got higher scores of anxiety and depression in HAD), which showed absolutely statistical significance; they demonstrated longer reaction time in AERP, which also showed statistical significance; and in CMS.