伴有无症状性周围神经病变的常染色体显性遗传性视神经萎缩
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
作者信息
Chalmers R M, Bird A C, Harding A E
机构信息
University Department of Clinical Neurology (Neurogenetics Section), Institute of Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):195-6. doi: 10.1136/jnnp.60.2.195.
Abstract
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
摘要
遗传性运动和感觉神经病变（HMSN）与视神经萎缩之间的关联被称为VI型HMSN。据报道，该综合征为常染色体显性遗传。三代人都患有视神经萎缩，在某些方面与典型的显性视神经萎缩不同，同时还患有无症状的、主要为感觉性的神经病变。
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本文引用的文献
1
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case.伴有原发性视神经萎缩的夏科-马里-图思病；病例报告
Arch Ophthalmol. 1960 Dec;64:925-8. doi: 10.1001/archopht.1960.01840010927014.
2
[Neurogenic muscular atrophy of Charcot-Marie-Tooth-Hoffman type, associated with bilateral optic atrophy].[夏科-马里-图斯-霍夫曼型神经源性肌肉萎缩，伴双侧视神经萎缩]
Acta Neurol Psychiatr Belg. 1956 May;56(5):302-12.
3
Visual prognosis in autosomal dominant optic atrophy (Kjer type).
Am J Ophthalmol. 1993 Mar 15;115(3):360-7. doi: 10.1016/s0002-9394(14)73589-5.
4
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.显性视神经萎缩（OPA1）定位于3号染色体q区域。I. 连锁分析。
Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977.
5
Familial opticoacoustic nerve degeneration and polyneuropathy.家族性视神经听觉神经变性与多发性神经病。
Neurology. 1967 Sep;17(9):827-32. doi: 10.1212/wnl.17.9.827.
6
Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families.
Am J Optom Arch Am Acad Optom. 1972 Mar;49(3):183-200. doi: 10.1097/00006324-197203000-00001.
7
Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity?
J Opt Soc Am. 1970 Aug;60(8):1132-9. doi: 10.1364/josa.60.001132.
8
Optic atrophy, hearing loss, and peripheral neuropathy.视神经萎缩、听力丧失和周围神经病变。
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9
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Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246-9. doi: 10.1007/BF02189534.
10
Color vision in dominant optic atrophy.显性视神经萎缩中的色觉
J Clin Neuroophthalmol. 1992 Jun;12(2):98-103.
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