伴有锥体束征的腓骨肌萎缩症（遗传性运动和感觉神经病Ⅴ型）：一个大家族的临床、神经生理学及病理学研究
Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.
作者信息
Frith J A, McLeod J G, Nicholson G A, Yang F
机构信息
Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, University of Sydney, Australia.
出版信息
J Neurol Neurosurg Psychiatry. 1994 Nov;57(11):1343-6. doi: 10.1136/jnnp.57.11.1343.
Abstract
A large family with autosomal dominant inheritance of peroneal muscular atrophy, associated with extensor plantar responses in some cases, has been studied. Onset was usually in the first two decades and spasticity was not a feature. Nerve conduction studies in 21 cases and light and electron microscope findings on six sural nerve biopsies were similar to those in hereditary motor and sensory neuropathy type II.
摘要
对一个常染色体显性遗传的腓骨肌萎缩症大家族进行了研究，部分病例伴有跖伸反应。发病通常在人生的前二十年，且无痉挛症状。对21例患者进行了神经传导研究，并对6例腓肠神经活检进行了光镜和电镜检查，结果与II型遗传性运动和感觉神经病相似。
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本文引用的文献
1
Hereditary spastic paraplegia with amyotrophy and pes cavus.伴有肌萎缩和高弓足的遗传性痉挛性截瘫
J Neurol Neurosurg Psychiatry. 1950 May;13(2):130-3. doi: 10.1136/jnnp.13.2.130.
2
Hereditary spastic paraplegia; report of a family with associated extrapyramidal signs.遗传性痉挛性截瘫；一个伴有锥体外系体征的家系报告。
Lancet. 1953 May 9;1(6767):921-3. doi: 10.1016/s0140-6736(53)92061-3.
3
The clinical features of hereditary motor and sensory neuropathy types I and II.遗传性运动和感觉神经病I型和II型的临床特征。
Brain. 1980 Jun;103(2):259-80. doi: 10.1093/brain/103.2.259.
4
Peroneal muscular atrophy with pyramidal features.伴有锥体束征的腓骨肌萎缩症
J Neurol Neurosurg Psychiatry. 1984 Feb;47(2):168-72. doi: 10.1136/jnnp.47.2.168.
5
Peripheral neuropathy associated with polycythemia vera.真性红细胞增多症相关的周围神经病变
Neurology. 1983 Feb;33(2):139-43. doi: 10.1212/wnl.33.2.139.
6
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.伴有腓骨肌萎缩的下运动神经元和初级感觉神经元疾病。II. 各种神经元变性的神经学、遗传学和电生理发现。
Arch Neurol. 1968 Jun;18(6):619-25. doi: 10.1001/archneur.1968.00470360041003.
7
Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.腓骨肌萎缩症的运动神经传导速度：遗传异质性的证据
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8
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study.遗传性运动和感觉神经病与遗传性痉挛性截瘫：一项磁刺激研究。
Ann Neurol. 1990 Jul;28(1):43-9. doi: 10.1002/ana.410280109.
9
Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V).伴有锥体束征的遗传性运动和感觉神经病（HMSN V）家系中的中枢运动传导
J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):511-5. doi: 10.1136/jnnp.54.6.511.
10
Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.
Am J Med Genet. 1992 Nov 1;44(4):455-60. doi: 10.1002/ajmg.1320440414.
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