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Peripheral neuropathy in genetic mitochondrial diseases.
Pediatr Neurol. 2006 Feb; 34(2):127-31.PN

Abstract

Peripheral neuropathy is an underrecognized but common occurrence in genetic mitochondrial disorders. To gain insight into the frequency and clinical presentation of this complication, nerve conduction studies were performed on 43 subjects with congenital lactic acidosis enrolled in a controlled clinical trial of oral dichloroacetate. Median and peroneal motor conduction studies and median and sural sensory conduction studies were performed on each patient. The mean amplitude of the peroneal motor nerve (P < 0.001) and the conduction velocities of the median (P < 0.001) and peroneal (P < 0.001) motor nerves were uniformly lower in our subjects than in healthy literature control subjects. There were no significant differences in sensory nerve conduction studies. A generalized reduction in motor nerve conduction velocity was the dominant electrophysiological abnormality in the patients in this study and was independent of age, sex, or congenital mitochondrial disorder. We postulate that cellular energy failure is the most likely common cause of peripheral neuropathy in patients with genetic mitochondrial diseases, owing to the high demand for adenosine triphosphate via aerobic carbohydrate metabolism by nerve tissue.

Authors+Show Affiliations

Department of Neurology, University of Florida, Gainesville, Florida, USA. stickle@musc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

16458825

Citation

Stickler, David E., et al. "Peripheral Neuropathy in Genetic Mitochondrial Diseases." Pediatric Neurology, vol. 34, no. 2, 2006, pp. 127-31.
Stickler DE, Valenstein E, Neiberger RE, et al. Peripheral neuropathy in genetic mitochondrial diseases. Pediatr Neurol. 2006;34(2):127-31.
Stickler, D. E., Valenstein, E., Neiberger, R. E., Perkins, L. A., Carney, P. R., Shuster, J. J., Theriaque, D. W., & Stacpoole, P. W. (2006). Peripheral neuropathy in genetic mitochondrial diseases. Pediatric Neurology, 34(2), 127-31.
Stickler DE, et al. Peripheral Neuropathy in Genetic Mitochondrial Diseases. Pediatr Neurol. 2006;34(2):127-31. PubMed PMID: 16458825.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Peripheral neuropathy in genetic mitochondrial diseases. AU - Stickler,David E, AU - Valenstein,Edward, AU - Neiberger,Richard E, AU - Perkins,Leigh Ann, AU - Carney,Paul R, AU - Shuster,Jonathan J, AU - Theriaque,Douglas W, AU - Stacpoole,Peter W, PY - 2005/04/12/received PY - 2005/08/02/accepted PY - 2006/2/7/pubmed PY - 2006/5/19/medline PY - 2006/2/7/entrez SP - 127 EP - 31 JF - Pediatric neurology JO - Pediatr Neurol VL - 34 IS - 2 N2 - Peripheral neuropathy is an underrecognized but common occurrence in genetic mitochondrial disorders. To gain insight into the frequency and clinical presentation of this complication, nerve conduction studies were performed on 43 subjects with congenital lactic acidosis enrolled in a controlled clinical trial of oral dichloroacetate. Median and peroneal motor conduction studies and median and sural sensory conduction studies were performed on each patient. The mean amplitude of the peroneal motor nerve (P < 0.001) and the conduction velocities of the median (P < 0.001) and peroneal (P < 0.001) motor nerves were uniformly lower in our subjects than in healthy literature control subjects. There were no significant differences in sensory nerve conduction studies. A generalized reduction in motor nerve conduction velocity was the dominant electrophysiological abnormality in the patients in this study and was independent of age, sex, or congenital mitochondrial disorder. We postulate that cellular energy failure is the most likely common cause of peripheral neuropathy in patients with genetic mitochondrial diseases, owing to the high demand for adenosine triphosphate via aerobic carbohydrate metabolism by nerve tissue. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/16458825/Peripheral_neuropathy_in_genetic_mitochondrial_diseases_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(05)00464-9 DB - PRIME DP - Unbound Medicine ER -