ABSTRACT
<p><b>BACKGROUND</b>Progressive bulbar palsy (PBP) is a classic phenotype of bulbar onset amyotrophic lateral sclerosis (ALS) with more rapid progression and worse prognosis. However, as an often under-understood variant of ALS, isolated bulbar palsy (IBP) appears to progress more slowly and has a relatively benign prognosis. This study aimed to investigate the natural course and clinical features of IBP in Chinese population and to compare them with those of PBP.</p><p><b>METHODS</b>The clinical data of patients with bulbar onset ALS were collected from January 2009 to December 2013. Revised ALS Functional Rating Scale (ALSFRS-R), forced vital capacity (FVC), and follow-up evaluation were performed, and the differences in basic clinical features, ALSFRS-R, FVC, and primary outcome measures between IBP and PBP were analyzed. The independent t-test, Chi-square test, Mann-Whitney U-test, and Kaplan-Meier analysis were used.</p><p><b>RESULTS</b>Totally 154 patients with bulbar onset ALS were categorized into two groups, 33 with IBP and 121 with PBP. In the IBP group, the male to female ratio was 0.7 to 1.0, and the mean onset age was 58.5 years. The mean duration from the onset was 16.0 months, and the mean ALSFRS-R score was 43.4 at patients' first visit to our hospital. In 14 IBP patients performing FVC examination, the mean FVC value was 90.5% and there were only two cases with abnormal FVC. In 26 IBP patients completing follow-up, 15 (58%) suffered death or tracheotomy and the mean survival time was 40.5 months. Significant differences were noted in sex ratio, onset age, ALSFRS-R score, upper motor neuron limb signs, pure lower motor neuron (LMN) bulbar signs, FVC, and survival time between IBP and PBP.</p><p><b>CONCLUSIONS</b>IBP was evidently different from PBP, which was characterized with the predominance of female, pure LMN bulbar signs, an older onset age, a relative preservation of respiratory function, and a better prognosis.</p>
ABSTRACT
<p><b>BACKGROUND</b>Spontaneous potentials in electromyography (EMG) of paraspinal muscles are associated with diaphragm denervation and, therefore, poor respiratory function in amyotrophic lateral sclerosis (ALS) is understandable. EMG changes in the rectus abdominis (RA) display an effect similar to those in paraspinal muscles with respect to the function of lower motor neurons in the thoracic spinal cord. The RA denervation was examined to determine its association with ventilation dysfunction in ALS.</p><p><b>METHODS</b>We collected the clinical data of 128 patients with sporadic ALS in Department of Neurology of Peking University Third Hospital from 2009 to 2013. EMG, Revised ALS Functional Rating Scale (ALSFRS-R) and forced vital capacity (FVC) were performed in all patients and the differences in the EMG changes in RA between those with and without FVC ≥ 80% were analysed.</p><p><b>RESULTS</b>The mean FVC value was 83.4% ± 17.1% (range: 45%-131%) of the predicted value. A total of 79 patients displayed FVC ≥80%, and 49 patients displayed FVC <80%. Compared with the patients displaying a normal FVC (60/79, 75.9%), spontaneous activity in RA was significantly different among those patients displaying an FVC <80% (47/49, 95.9%). In addition, spontaneous potentials in RA were more frequently detected in patients exhibiting dyspnea (32/33, 97.0%) than in patients without dyspnea (75/95, 78.9%).</p><p><b>CONCLUSION</b>Spontaneous potentials in RA are associated with ventilation dysfunction and dyspnea in ALS patients.</p>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Action Potentials , Physiology , Amyotrophic Lateral Sclerosis , Electromyography , Electrophysiology , Motor Neurons , Physiology , Paraspinal Muscles , Quadriceps Muscle , Rectus AbdominisABSTRACT
@#ObjectiveTo determine the distribution of the single neucleutide polymorphisms (SNPs) of the vascular endothelial growth factor (VEGF) gene in Chinese Han population. Methods252 healthy Chinese Han subjects were studied with PCR technique. The results were compared with the data on European Caucasians reported. ResultsThe frequencies of VEGF gene allele C and A were respectively 71.8% and 28.2%. The genotypes of CC, CA and AA were 48.8%, 46.0% and 5.2%, respectively. The frequencies of VEGF promoter 2578A/A polymorphism in Chinese Han population were significantly different from those in European Caucasian population(P<0.01). Conclusion2578A/A homozygote which results to low VEGF expression of Chinese Han subjects is remarkably less than that of European Caucasians.
ABSTRACT
Objective To diagnose Kennedy's disease (KD) via molecular analysis of the androgen receptor gene with suspected KD.Methods Two patients with suspected KD were reported.We analyzed their clinical features and investigated the number of CAG repeats in the androgen receptor genes. Results Both of the patients were characterized by slow progression of predominant proximal and bulbar muscle weakness.Patient 2 had oligospermatism.Serum creatine kinase and triglyceride levels were found markedly increased.The exact number of CAG was 52 in patient 1 and 48 in patient 2,respectively.These 2 patients were finally diagnosed as Kennedy's disease through the analysis of androgen receptor gene by PCR and direct sequencing.Conclusions The method of molecular analysis for KD had been copied in China.The clinical and molecular biological features of 2 Chinese patients with KD had been discussed.KD is a neurodegenerative disorder by proximal limb muscular atrophy and weakness with lower motor neuron signs,bulbar involvement.Dyscrinism and metabolic abnormalities may also be observed.Gene analysis is the unique and reliable methods to diagnose KD.