ABSTRACT
Objective The aim of this study was to investigate the characteristic of regional cerebral glucose metabolism in patients with Wilson's disease (WD) using 18F-fluorodeoxyglucose (FDG) PET.Methods Thirteen WD patients and 12 normal controls were studied by brain 18F-FDG PET, and the data were analyzed by visual analysis, semi-quantification and statistical parametric mapping (SPM). The radioactivity ratios of lenticular nuclei, caudate, thalamus and cerebellum to cerebral cortex and the ratio of lenticular nuclei to caudate were calculated, respectively. SPSS 11.0 software for statistics was also used to analyze the data. Results In WD patients, radioactivity of lenticular nuclei and candate was significantly decreased compared with controls. The radioactivity ratios of lenticular nuclei and caudate to cerebral cortex in WD patients were both significantly lower than that in normal controls (0.95±0.05 vs 1.26±0.05, t =15, P < 0.05 ; 1.02±0.06 vs 1.17±0.05, t = 8, P < 0.05), and the ratio of lenticular nuclei to caudate in WD patients was significantly higher than that in normal controls (0.93±0.06 vs 1.09±0.06, t =9, P< 0.05). Conclusion As compared with normal controls, patients with WD had significantly decreased glucose utilization in the basal ganglia, especially in the lenticullar nuclei.
ABSTRACT
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. PKD commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. It has been linked to 16p12-q12 or 16q13-q22 loci in various families of different populations, which suggests a genetic heterogeneity. The exact etiology and pathogenesis of PKD await further elucidation, although ion channelopathy is suggested as a probable underlying etiology. Here, the recent advances of the genetic research on PKD will be reviewed.
Subject(s)
Humans , Chromosome Mapping , Dyskinesias , Genetics , Genetic Research , Movement Disorders , Genetics , PedigreeABSTRACT
<p><b>OBJECTIVE</b>To study the strategy of applying molecular genetic methods and techniques in the diagnosis of spinocerebellar ataxias (SCA).</p><p><b>METHODS</b>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. The repeat numbers were calculated by software.</p><p><b>RESULTS</b>SCA3 was the most common type in the Hans of south China, accounting for 42.0%, followed by SCA2 (7.4%), SCA1 (4.9%), SCA7 (3.7%), SCA6 (2.5%) and SCA12 (1.2%). No patient was found to have SCA8, SCA10, SCA17, and dentatorubro-pallidoluysian atrophy(DRPLA).</p><p><b>CONCLUSION</b>Molecular genetic detection is an effective way to confirmation of SCA subtype diagnosis and presymptomatic genetic diagnosis.</p>