Collagen VI-related myopathy with scoliosis alone: A case report and literature review.

BACKGROUND: Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy, caused by mutations in collagen type VI alpha 1 chain (COL6A1), COL6A2, and COL6A3 genes. The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities. CASE SUMMARY: A 28-year-old female presented with scoliosis for 28 years without weakness, hypotonia, laxity of distal joints, and contracture of proximal joints. Computed tomography and magnetic resonance imaging revealed hemivertebra, butterfly vertebra, and the missing vertebral space. Patients underwent orthopedic surgery and paravertebral muscle biopsy. The Cobb angle dropped from 103.4° to 52.9°. However, the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions, suggesting congenital muscular dystrophy. Gene analysis indicated that mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry staining for collagen VI displayed shallow and discontinuous. Eventually, the patient was diagnosed as collagen VI-related myopathy. CONCLUSION: This newly found subtype of collagen VI-related myopathy has no typical manifestations; however, it is characterized by severe scoliosis and congenital vertebral deformity.

The relationship between obstructive sleep apnea and Parkinson's disease: a systematic review and meta-analysis.

BACKGROUND: Obstructive sleep apnea (OSA) is a common sleep disorder in Parkinson's disease (PD). However, the relationship between OSA and PD is still inconsistent. Our study was aimed to evaluate the relationship between PD and OSA. METHODS: Studies on OSA and PD were searched using PubMed, Embase, Web of Science, Cochrane library, and Chinese National Knowledge Infrastructure databases. Review Manager 5.3 software was used to calculate the pooled estimate effect. The inverse variance model was used to pool the mean difference (MD) or hazard ratios (HRs); the Mantel-Haenszel method was used to pool the odds ratio (OR). Heterogeneity among the studies was assessed using I2 statistic and Q test. RESULTS: A total of 12 studies with 93,332 cases were deemed eligible and included in our meta-analysis. Overall, the occurrence of PD was more frequent in patients with OSA (HR 1.59, 95% CI, 1.36-1.85). The subgroup analysis demonstrated the risk similarly by sex. Male and female had HR of incident PD with OSA of 1.56 (95% CI, 1.30-1.87) and 1.60 (95% CI, 1.21-2.11), respectively. The incidence of OSA did not increase in PD patients (OR 0.89, 95% CI, 0.53-1.49). The MD of apnea-hypopnea index (AHI) in PD patients was also not statistically significant (P = 0.5). CONCLUSIONS: The results indicate that OSA is one of independent risk factors of PD. However, OSA does not seem to be abnormally frequent in PD.

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

Intraneural perineurioma affecting multiple nerves: a case report and literature review.

Intraneural perineurioma is a neoplasm of perineurial cells, corresponding to WHO grade I. We present a case of intraneural perineurioma affecting multiple nerves, which usually involved one or two of major nerve trunks in one patient. We describe the clinical presentation, magnetic resonance (MR) neurography characteristics, and pathological characteristics. The differential diagnosis with other diseases, such as neurofibroma, Schwannomatosis and HNPP, will also be discussed. We also review the literature in efforts to highlight recent studies on intraneural perineurioma and heighten and awareness for the possible presentations of this disorder.

[Basic and clinical researches on amyotrophic lateral sclerosis/motor neuron disease].

This study includes three aspects: (1) we have reported some novel or rare mutations of SOD1 (Cu/Zn superoxide dismutase) gene in Chinese families of ALS/MND, and found quite different features from Western patients in polymorphisms with some candidate genes such as vascular endothelial growth factor (VEGF) in sporadic ALS/MND in China. Meanwhile, we have so for established a complete clinical database with more than 1 200 cases; (2) we have established some neurophysiologic techniques of diagnosis and differential diagnosis at early-stage for ALS/MND, which include trigemino-cervical response, sternocleidomastoid and rectus electromyography, contact heat evoked potentials, and motor unit number estimate; (3) we have attempted some experimental and clinical treatments for ALS/MND, which include gene and stem cell therapies in animal models, and a pilot clinical trial of granulocyte colony stimulating factor (G-CSF) for ALS/MND patients (NCT00397423).