THE CLINICAL-FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I AND TYPE-II
THE CLINICAL-FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I AND TYPE-II
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DOI：
10.1093/brain/103.2.259
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发表时间：
1980-01-01
期刊：
影响因子：
14.5
通讯作者：
THOMAS, PK
中科院分区：
文献类型：
--
作者：
HARDING, AE;THOMAS, PK
对228例遗传性运动和感觉神经病患者进行了观察，其中包括120例索引病例和108例受影响的亲属。这些可以分为遗传上不同的I型和II型类别，这取决于正中神经中的运动神经传导速度是否低于或高于38 m s-1。这些疾病构成了“腓骨肌萎缩症”临床谱中独立的遗传亚群。第一类病例较多。大多数为常染色体显性遗传，但也有一部分为散发性。四个可能的常染色体隐性遗传的家庭进行了鉴定，这些表现出显着较慢的运动传导速度。运动传导速度的先证者和他们的亲属在总的I型组中的运动传导速度之间存在正相关，这在提取常染色体隐性病例后仍然存在，表明常染色体显性家族之间存在进一步的遗传异质性。未发现X连锁隐性家系。I型病例在生命的第一个十年期间出现症状的高峰年龄。与II型病例相比，他们表现出更大的倾向，表现出手无力，上肢震颤和共济失调，全身肌腱反射消失和更广泛的远端感觉丧失，有时伴有肢端营养不良的变化。足部和脊柱畸形更常见，可能是由于发病年龄较早。神经增厚仅限于I型病例。在II型病例中，症状的发作最常在第二个十年，但在一些病例中，症状的发作被推迟，甚至迟至第七个十年。大多数病例再次常染色体显性遗传，但两个可能的常染色体隐性遗传的家庭，以及零星的情况下进行检测。上肢震颤也发生在这种形式，但相当不常见。在这两种类型中，男性往往受到更严重的影响，而无症状的受影响家庭成员（“formes frustes”）更常见于女性。
Observations have been made on a series of 228 patients with hereditary motor and sensory neuropathy, comprising 120 index cases and 108 affected relatives. These could be separated into genetically distinct type I and type II categories depending upon whether motor nerve conduction velocity in the median nerve was below or above 38 m s-1. These disorders constitute separate genetic subgroups within the clinical spectrum of'peroneal muscular atrophy'. Type I cases were more numerous. Most were of autosomal dominant inheritance, but a proportion were sporadic. Four families with probable autosomal recessive inheritance were identified; these displayed significantly slower motor conduction velocity. There was a positive correlation between motor conduction velocity in the propositi and that in their relatives in the total type I group which persisted after the autosomal recessive cases had been extracted, indicating further genetic heterogeneity amongst the autosomal dominant families. No X-linked recessive families were encountered. Type I cases had a peak age of onset of symptoms during the first decade of life. In comparison with the type II cases, they displayed a greater tendency to show weakness of the hands, upper limb tremor and ataxia, generalized tendon areflexia and more extensive distal sensory loss, sometimes with acrodystrophic changes. Foot and spinal deformities were more frequent, probably due to the earlier age of onset. Nerve thickening was confined to the type I cases. The onset of symptoms was most often in the second decade in the type II cases, but in some it was delayed, even as late as the seventh decade. Most cases were again of autosomal dominant inheritance, but two probable autosomal recessive families were detected, as well as sporadic cases. Upper limb tremor also occurred in this form but was considerably less common. In both types, males tended to be more severely affected, and asymptomatic affected family members ('formes frustes') were more commonly female.