髓磷脂蛋白零突变His39Pro：具有可变发病、听力丧失、不宁腿和多发性硬化症的遗传性运动和感觉神经病。
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
作者信息
Kilfoyle D H, Dyck P J, Wu Y, Litchy W J, Klein D M, Dyck P J B, Kumar N, Cunningham J M, Klein C J
机构信息
Peripheral Nerve Group, Department of Neurology, Mayo Clinic, Genotyping Shared Resource Center of Advanced Genomic Technology Center, Rochester, Minnesota 55905, USA.
出版信息
J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):963-6. doi: 10.1136/jnnp.2006.090076.
BACKGROUND
Mutations of myelin protein zero (MPZ) may cause inherited neuropathy with variable expression.
OBJECTIVE
To report phenotypic variability in a large American kindred with MPZ mutation His39Pro.
PATIENTS
Genetic testing was performed on 77 family members and 200 controls. Clinical and electrophysiological field study assessments were available for review in 47 family members.
RESULTS
His39Pro was found in all 10 individuals prospectively identified with neuropathy. 200 normal controls were without mutation. Symptoms of neuropathy began in adulthood and were slowly progressive except for one acute-onset painful sensory neuropathy. Associated features included premature hearing loss (n = 7), nocturnal restless leg symptoms (n = 8) and multiple sclerosis in one.
CONCLUSIONS
MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs. The relationship with multiple sclerosis in the proband remains uncertain.
背景
髓磷脂蛋白零（MPZ）突变可能导致具有可变表达的遗传性神经病。
目的
报告一个携带MPZ突变His39Pro的大型美国家族中的表型变异性。
患者
对77名家庭成员和200名对照进行了基因检测。47名家庭成员可进行临床和电生理领域研究评估以供审查。
结果
在所有10名前瞻性确定患有神经病的个体中均发现His39Pro。200名正常对照无突变。神经病症状始于成年期，除1例急性起病的疼痛性感觉神经病外，均呈缓慢进展。相关特征包括早发性听力丧失（n = 7）、夜间不安腿症状（n = 8），以及1例患有多发性硬化症。
结论
MPZ突变His39Pro可能与急性起病的神经病、早发性听力丧失和不安腿有关。先证者与多发性硬化症的关系仍不确定。
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