Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP).</p><p><b>METHODS</b>All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to electromyography (EMG) examinations. The proband was subjected to thoracic MRI examination too. Mutation analysis of spastin gene was screened by polymerase chain reaction combined with DNA sequencing in the proband and his father.</p><p><b>RESULTS</b>All patients in the kindred manifested as classical HSP. Thoracic MRI revealed atrophies of the spinal cord in the proband. No abnormal spastin gene mutation was detected in these two patients.</p><p><b>CONCLUSION</b>This kindred has typical clinical manifestations of HSP. The pathogenesis has no association with mutation of the exons of spastin gene.</p>

Leptin enhances the release of cytokines by peripheral blood mononuclear cells from acute multiple sclerosis patients / 神经科学通报·英文版

Objective To explore the effect of leptin on cytokine production by PBMCs obtained from MS patients either in acute (relapse) or in stable (nonrelapse) phase of disease. Methods PBMCs were collected from 25 untreated acute MS patients, 11 stable MS patients and 20 healthy controls. PBMCs were cultured either with RPMI-1640 alone or with leptin (1.25 nmol/ml), phytohemagglutinin (PHA) (100 mug/ml), and leptin + PHA. 72 h later the supernate of the culture medium were collected and stored at -70 degrees C. The pro-inflammatory cytokine (IFN-gamma) concentration were determined using an enzyme-linked immunosorbent assay ( ELISA), and the anti-inflammatory cytokine (IL-4) concentration were investigated by radioimmunity methods. Results Our data showed that leptin induced IFN-gamma production by PBMCs of patients in an acute phase of disease but not in a stable phase or in healthy controls. Moreover, we found that PHA induced IL-4 production by PBMCs of patients in an acute phase of disease, but leptin inhibited this ability of PHA. Conclusion Leptin can affect on pro- and anti-inflammatory cytokine production by PBMCs collected from MS patients, may be this connected with leptin increase the susceptiveness of MS.