Donaghy M, Sisodiya S M, Kennett R, McDonald B, Haites N, Bell C
Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, UK.
J Neurol Neurosurg Psychiatry. 2000 Dec;69(6):799-805. doi: 10.1136/jnnp.69.6.799.
To report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene. Most MPZ mutations lead to the HMSN type I phenotype, with recent reports of Déjérine-Sottas, congenital hypomyelination, and HMSN II also ascribed to MPZ mutations. Differing phenotypes may reflect the effect of particular mutations on MPZ structure and adhesivity.
Clinical, neurophysiological, neuropathological, and molecular genetic analysis of a family presenting with an unusual hereditary neuropathy.
Progressive disabling weakness, with positive sensory phenomena and areflexia, occurred in the proband with raised CSF protein and initial steroid responsiveness. Nerve biopsy in a less severely affected sibling disclosed a demyelinating process with disruption of compacted myelin. The younger generation were so far less severely affected, becoming symptomatic only after 30 years. All affected family members were heterozygous for a novel MPZ mutation (Ile99Thr), in a conserved residue.
This broadens the range of familial neuropathy associated with MPZ mutations to include steroid responsive neuropathy, initially diagnosed as chronic inflammatory demyelinating polyneuropathy.
报告一种新型遗传性运动和感觉神经病（HMSN）表型，其对类固醇有部分反应，由髓磷脂蛋白零（MPZ）基因的新型显性突变引起。大多数MPZ突变导致I型HMSN表型，最近有报道称 Déjérine-Sottas病、先天性髓鞘形成不足和II型HMSN也归因于MPZ突变。不同的表型可能反映了特定突变对MPZ结构和黏附性的影响。
对一个患有不寻常遗传性神经病的家系进行临床、神经生理学、神经病理学和分子遗传学分析。
先证者出现进行性致残性肌无力，伴有感觉异常阳性和无反射，脑脊液蛋白升高且最初对类固醇有反应。对一名受累较轻的同胞进行神经活检，发现有脱髓鞘过程，致密髓鞘被破坏。年轻一代目前受累较轻，30岁后才出现症状。所有受累家庭成员均为一种新型MPZ突变（Ile99Thr）的杂合子，该突变位于一个保守残基上。
这拓宽了与MPZ突变相关的家族性神经病的范围，包括最初被诊断为慢性炎症性脱髓鞘性多发性神经病的类固醇反应性神经病。
