The association between angiogenin gene variations and familial amyotrophic lateral sclerosis in Chinese Han patients / 中华内科杂志

Objective To investigate effect of genetic variants in angiogenin (ANG) on the susceptibility of familial amyotrophic lateral sclerosis (FALS) in Han Chinese.Methods Thirty-one FALS families from 2009 to 2012 were collected and ANG gene was screened in the probands using PCR and direct sequencing.Results All 31 ALS families were autosomal dominant inheritance.No mutations and single nucleotide polymorphism were detectable in ANG gene in the 31 probands.Conclusion Our study suggests that ANG gene variations may be rare in Chinese Han FALS.

Ventilation function disorder of flail arm syndrome / 中华内科杂志

Objective To study the features of ventilation function in patients with flail arm syndrome (FAS).Methods The clinical data of 351 patients with sporadic amyotrophic lateral sclcrosis (ALS) fron 2009 to 2013 were retrospectively reviewed.Among them,329 were classical ALS and 22 were FAS.The differences of forced vital capacity (FVC) between FAS and classical ALS were analyzed.Results The percent predicted FVC (FVC％pred) values were (88.0 ±9.5)％ in FAS and (84.3 ± 16.8)％ in classical ALS including 4 and 128 patients with abnormal FVC％ pred (＜80％) in FAS and classical ALS,respectively.The FVC％ pred levels were significantly higher in FAS subjects [(88.0 ± 9.5) ％] than in classical ALS subjects of bulb [(80.0 ± 14.8) ％] or those of upper limb [(80.8 ± 16.0) ％] onset with duration over 12 months (All P ＜ 0.05).The proportion of subjects with FVC％pred ＜ 80％ was statistically lower in FAS [18.2％ (4/22)] than in both classical ALS of upper limb onset [42.8％ (80/187);P=0.037] and classical ALS with duration over one year [48.5％ (48/99);P =0.009].Conclusions Impaired ventilation function occurs less and later in FAS than that in classical ALS of upper limb onset with duration over one year,suggesting later and less requirement for non-invasive positive pressure ventilation treatment for FAS patients.Differentiation of FAS subjects from ALS helps assess prognosis and make treatment plan for these patients.

Association between superoxide dismutase 1 mutations and clinical phenotypes in Chinese patients with familial amyotrophic lateral sclerosis / 中华神经科杂志

Objective To identify the patterns of population distribution and the relationship of copper-zinc superoxide dismutase 1 (SOD1) mutations and clinical phenotypes in Chinese patients with familial amyotrophic lateral sclerosis (FALS).Methods The clinical data of 43 FALS families from 2008 to 2011 were collected,SOD1 gene mutations in the probands were screened with PCR and direct sequencing,and the correlations of genotype-phenotype were analyzed.Results All 43 FALS families were autosomal dominant inheritance.The male to female ratio for probands was 1∶0.6,and the average onset age was (48.1 ± 11.8) years.Upper limb onset accounted for 53.5％,lower limb onset 41.9％,and bulbar onset 4.6％.Nine mutation types including 8 missense mutations and 1 deletion mutation were detected in 10 probands.The detection rate of SOD1 mutations in this cohort was 23.3％.Conclusions The study reported the correlations of genotype-phenotype of SOD1 in a larger group of Chinese FALS patients.Two novel mutations were found including one deletion mutation.SOD1 mutations increased from 11 to 19 in Chinese FALS.For SOD1 patients,lower motor neuron signs usually predominated.Most clinical phenotypes of one mutation varied greatly in different families even in the same family.

The clinical features of 27 patients with Kennedy's disease / 中华神经科杂志

Objective To analyze the clinical features of 27 Chinese patients with Kennedy's disease(KD), a sex-linked inheritance disorder. Methods We collected the clinical data of 27 KD patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones and biochemical indicators. Results Patients with spinal and bulhar muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. Part of the invalids presented signs of androgen insensitivity such as gynecomastia or reduced sexual function, even though their degrees of sex hormones were normal. There was mild motor functional lesion which correlated with the course of the disease ( r = 0. 77, P = 0. 000). The degrees of creatine kinase ( ( 920. 10 ± 495.54 ) U/L ) and triglyceride ( ( 3.27 ± 2. 78) mmool/L) increased mildly and was significantly different from the levels of healthy ones (107.20 U/L,t =7.517,P =0.000;1.40 mmol/L, t =2.687,P =0.017). Conclusions Basically, Chinese KD patients present the same clinical features as the literature reports, however they have distinctive aspects such as elevated degree of triglyceride. The present research can help us to understand the features of Chinese KD more particularly.

Diagnostic process in 99 cases with amyotrophic lateral sclerosis / 中国康复理论与实践

@#ObjectiveTo explore the factors that delayed the diagnostic process and resulted in misdiagnosis of amyotrophic lateral sclerosis (ALS),in order to look for solution. MethodsThe records of 99 cases with ALS from 1999 to 2003 in our hospital were reviewed retrospectively. Clinical characteristics and diagnostic process on the patients were statistically analyzed.ResultsThe time needed to confirm diagnosis was (13.1±7.5) months. There was a positive correlation between the time when EMG was performed and the time the diagnosis was made. 58.6% of patients were initially misdiagnosed in other hospitals. The most common misdiagnosis was cervical spondylosis. The misdiagnosis more likely occured in the patients of 40-59 years old. The misdiagnosis rate in the patients with initial lower extremities symptoms was higher than that with initial bulbar and upper extremities symptoms. The misdiagnosis more likely occured in patients with early cervical MRI.ConclusionThe major causes of misdiagnosis are unfamiliarity of the physician with the disease,misleading findings or misinterpretation of neuro-radiological or neuro-physiological findings.