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Brain, Vol. 123, No. 7, 1516-1527, July 2000
© 2000 Oxford University Press

Neurological dysfunction and axonal degeneration in Charcot–Marie–Tooth disease type 1A

Karen M. Krajewski1,2, Richard A. Lewis1, Darren R. Fuerst3, Cheryl Turansky1, Steven R. Hinderer4, James Garbern1,2, John Kamholz1,2 and Michael E. Shy1,2

1 Department of Neurology, 2 Center for Molecular Medicine and Genetics and 3 Department of Psychiatry and Behavioral Sciences, Wayne State University School of Medicine and 4 Rehabilitation Institute of Michigan, Wayne State University, Detroit, Michigan, USA

Correspondence to: Michael E. Shy, MD, Department of Neurology, Wayne State University School of Medicine, Elliman Building, Room 3301, 421 E. Canfield, Detroit, MI 48201, USA E-mail: m_shy{at}mail4.wayne.edu

Charcot–Marie–Tooth disease type 1A (CMT1A), the most frequent form of CMT, is caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A typically have slowed nerve conduction velocities (NCVs), reduced compound motor and sensory nerve action potentials (CMAPs and SNAPs), distal weakness, sensory loss and decreased reflexes. In order to understand further the molecular pathogenesis of CMT1A, as well as to determine which features correlate with neurological dysfunction and might thus be amenable to treatment, we evaluated the clinical and electrophysiological phenotype in 42 patients with CMT1A. In these patients, muscle weakness, CMAP amplitudes and motor unit number estimates correlated with clinical disability, while motor NCV did not. In addition, loss of joint position sense and reduction in SNAP amplitudes also correlated with clinical disability, while sensory NCV did not. Taken together, these data strongly support the hypothesis that neurological dysfunction and clinical disability in CMT1A are caused by loss or damage to large calibre motor and sensory axons. Therapeutic approaches to ameliorate disability in CMT1A, as in amyotrophic lateral sclerosis and other neurodegenerative diseases, should thus be directed towards preventing axonal degeneration and/or promoting axonal regeneration.


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