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

ABSTRACT

<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>