Caress James B, Johnson Janel O, Abramzon Yevgeniya A, Hawkins Gregory A, Gibbs J Raphael, Sullivan Elizabeth A, Chahal Chamanpreet S, Traynor Bryan J
Department of Neurology, Wake Forest School of Medicine, Medical Center Blvd, Winston-Salem, North Carolina, 27157, USA.
Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Muscle Nerve. 2017 Nov;56(5):1001-1005. doi: 10.1002/mus.25550. Epub 2017 Mar 23.
Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS.
We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing.
Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV.
This American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. Hereditary amyloidosis type IV presents with bulbar motor neuropathy and not with peripheral neuropathy as occurs with common forms of amyloidosis. This report demonstrates the power of exome sequencing to determine the cause of rare hereditary diseases with incomplete or atypical phenotypes. Muscle Nerve 56: 1001-1005, 2017.
进行性延髓运动神经病主要由延髓起病的肌萎缩侧索硬化症（ALS）引起。IV型遗传性淀粉样变性也表现为类似运动神经元病的延髓神经病。该疾病仅在芬兰流行，在ALS的鉴别诊断中通常不被考虑。
我们研究了一个家族中的18名成员，其中一些人患有延髓运动神经病，并进行了外显子组测序。
发现5名受影响的家庭成员在已知会导致IV型遗传性淀粉样变性的GSN基因中有D187Y替代。
这个美国家族因在芬兰未发现的凝溶胶蛋白突变而出现进行性延髓神经病。IV型遗传性淀粉样变性表现为延髓运动神经病，而非常见淀粉样变性形式所出现的周围神经病。本报告证明了外显子组测序在确定具有不完全或非典型表型的罕见遗传性疾病病因方面的作用。《肌肉与神经》56: 1001 - 1005, 2017年。
