Late-onset hereditary axonal neuropathies

Bennett, C.L., Lawson, V.H., Brickell, K.L., Isaacs, K., Seltzer, W., Lipe, H.P., Weiss, M.D., Carter, G.T., Flanigan, K.M., Chance, P.F., and Bird, T.D. (2008) Late-onset hereditary axonal neuropathies. Neurology, 71 (1). pp. 14-20.

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Abstract

Background: Hereditary motor-sensory neuropathy or the Charcot-Marie-Tooth syndrome is known to represent considerable genetic heterogeneity. Onset is usually in childhood, adolescence, or young adulthood. The objective of this study was to define late-onset forms of the disorder. Methods: A clinical and genetic study of families with uniformly late onset of peripheral neuropathy was performed in a university neurogenetics setting. Results: Six families were identified with consistently late onset of a primarily axonal neuropathy. Median age at symptom onset was 57 years (range 35-85 years) of a mixed motor and sensory neuropathy with electrophysiologic characteristics of an axonal rather than demyelinating condition. There was a possible association with deafness. Two families showed autosomal dominant inheritance whereas four families had only one affected generation with an excess of males. An extensive mutation screen of nine genes known to cause Charcot-Marie-Tooth was negative. Conclusion: There are late-onset forms of hereditary axonal neuropathies. The genetic causes remain unknown and genetic heterogeneity within this entity is likely.

Item ID: 35701
Item Type: Article (Research - C1)
ISSN: 1526-632X
Date Deposited: 30 Oct 2014 03:52
FoR Codes: 06 BIOLOGICAL SCIENCES > 0604 Genetics > 060410 Neurogenetics @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110999 Neurosciences not elsewhere classified @ 50%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 100%
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