首页 > 科研进展 > 学术交流

Later onset spinal muscular atrophy with severe dysautonomia in patients with VAPB P56S mutation

作者:Guo XJ 等 日期:2019-11-23 浏览量:86

第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文(129)

Department of Neurology, Peking University First Hospital, Beijing, China

Guo XJ, Meng LC, Liu J, Lv H, Wang ZX, Yuan Y,

The vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene mutation was identified in patients with different motor neuron diseases, including ALS8, late-onset SMA, proximal SMA with dysautonomia and typical severe ALS with rapid progression. Here, we report a Later onset spinal muscular atrophy with dysautonomia caused by VAPB P56S mutation. The proband was a 55 years old man with slow progressive muscle weakness and atrophy with chronic myalgia over ten years. Physical examination revealed proximal predominant weakness in all limbs with hypoactivity of tendon reflexes and no pyramidal signs. The family pedigree showed other 3 patients with same symptoms in two successive generations. Electromyography revealed neurogenic changes in the tested muscles. Muscle biopsy revealed angular fibers with fiber type grouping and necrosis fibers. Next generation sequence revealed P56S mutation in VAPB gene. Our findings further expended the clinical spectrum for patients with VAPB P56S mutation.