Abstract
Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (HMSN type VI) has been described, and the first in which electrophysiological studies have been reported.
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Selected References
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- Chalmers R. M., Bird A. C., Harding A. E. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):195–196. doi: 10.1136/jnnp.60.2.195. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Eiberg H., Kjer B., Kjer P., Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994 Jun;3(6):977–980. doi: 10.1093/hmg/3.6.977. [DOI] [PubMed] [Google Scholar]
- HOYT W. F. Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. Arch Ophthalmol. 1960 Dec;64:925–928. doi: 10.1001/archopht.1960.01840010927014. [DOI] [PubMed] [Google Scholar]
- Hagemoser K., Weinstein J., Bresnick G., Nellis R., Kirkpatrick S., Pauli R. M. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet. 1989 May;33(1):61–65. doi: 10.1002/ajmg.1320330108. [DOI] [PubMed] [Google Scholar]
- Harding A. E. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain. 1995 Jun;118(Pt 3):809–818. doi: 10.1093/brain/118.3.809. [DOI] [PubMed] [Google Scholar]
- Rosenberg R. N., Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology. 1967 Sep;17(9):827–832. doi: 10.1212/wnl.17.9.827. [DOI] [PubMed] [Google Scholar]
- Weiller C., Ferbert A. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli). Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246–249. doi: 10.1007/BF02189534. [DOI] [PubMed] [Google Scholar]