Dyck P J, Litchy W J, Gosselin S
Peripheral Nerve Laboratory, Mayo Medical School and Foundation, Rochester, Minnesota 55905.
Rev Neurol (Paris). 1988;144(6-7):421-4.
We have extended the study of a previously published kindred with spastic paraplegia and palmoplantar hyperkeratosis from 2 to 18 persons. Present evidence suggests that both neural and cutaneous manifestations are due to a single mutant gene, inherited as an autosomal dominant. Nerve conduction and EMG examination provide evidence for mild lower motor and primary sensory neuron (axon) involvement but these techniques are not useful for early detection. The disorder is a unique genetic disease which stands apart from other mostly recessively inherited varieties of neuroichthyosis.
我们将之前发表的一个患有痉挛性截瘫和掌跖角化过度的家族研究对象从2人扩展到了18人。目前的证据表明，神经和皮肤表现均由单一突变基因引起，呈常染色体显性遗传。神经传导和肌电图检查为轻度下运动神经元和初级感觉神经元（轴突）受累提供了证据，但这些技术对早期检测并无帮助。该疾病是一种独特的遗传性疾病，与其他大多为隐性遗传的神经鱼鳞病不同。
