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
相似文献
1
Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.
J Neurol Neurosurg Psychiatry. 1994 Nov;57(11):1343-6. doi: 10.1136/jnnp.57.11.1343.
2
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.
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
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
J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68-75. doi: 10.1136/jnnp.37.1.68.
5
Motor and sensory conduction velocity in spinal muscular atrophy. Follow-up study.
Electromyogr Clin Neurophysiol. 1977 Sep-Oct;17(5):385-91.
6
[Studies on nerve conduction in neural muscular atrophy and Friedreich's hereditary ataxia].[关于神经肌肉萎缩和弗里德赖希遗传性共济失调中神经传导的研究]
Dtsch Z Nervenheilkd. 1969;195(3):166-86.
7
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).
Ann Hum Genet. 1974 Oct;38(2):111-53. doi: 10.1111/j.1469-1809.1974.tb01945.x.
8
Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study.腓骨肌萎缩症。第一部分。临床与电生理研究。
J Neurol Sci. 1983 Oct-Nov;61(3):389-99. doi: 10.1016/0022-510x(83)90172-7.
9
Hereditary motor and sensory neuropathy. Clinical, genetic and electrodiagnostic studies.遗传性运动和感觉神经病。临床、遗传学及电诊断研究。
Rom J Neurol Psychiatry. 1993 Jul-Dec;31(3-4):207-19.
10
Peroneal muscular atrophy with autosomal dominant inheritance.
Clin Exp Neurol. 1977;14:142-53.
引用本文的文献
1
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.MORC2突变导致伴有锥体束征的轴索性遗传性运动感觉神经病。
Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.
2
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.由线粒体融合蛋白2突变引起的轴索性夏科-马里-图斯神经病变中的脑受累情况。
J Neurol. 2008 Jul;255(7):1049-58. doi: 10.1007/s00415-008-0847-1. Epub 2008 Apr 21.
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
J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68-75. doi: 10.1136/jnnp.37.1.68.
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.
Zotero 插件