Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

• Published in: Muscle & nerve Vol. 19; no. 1; pp. 74 - 78
• Main Authors: Killian, James M., Tiwari, Pinky S., Jacobson, Sheila, Jackson, Robert D., Lupski, James R.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.01.1996; Wiley
• Subjects: Adolescent; Adult; Biological and medical sciences; Charcot-Marie-Tooth; Charcot-Marie-Tooth Disease - complications; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - physiopathology; Child; Child, Preschool; chromosome 17 duplication; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; hereditary polyneuropathy; Humans; Longitudinal Studies; Male; Median Nerve - physiopathology; Medical sciences; Multigene Family; Muscle Weakness - etiology; Muscles - physiopathology; nerve conduction study; Neural Conduction; Neurology; Peroneal Nerve - physiopathology; Reaction Time; Reflex, Stretch; Human; Neuromuscular diseases; Nervous system diseases; Duplication; Electrophysiology; Polyneuropathy; Conduction velocity; Genetic disease; Nerve conduction; Electrodiagnosis; Charcot Marie Tooth disease; Chromosome E17; Follow up study; Central nervous system disease; Median nerve; Genetics; Degenerative disease; Motor nerve; Spinal cord disease
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3

This study presents a longitudinal comparison of motor nerve conduction velocities (MCVs) in patients with Charcot‐Marie‐Tooth type 1A with proven duplication of a segment of chromosome 17p11.2p12. Results were compared for 8 CMT1A duplication patients from one family whose MCV measurements were taken 22 years apart (1967 and 1989). Measurements from a total of seven median motor and five peroneal motor MCVs were compared. Median MCVs showed a slight reduction that averaged 2.2 m/s, and peroneal MCVs showed an average decrease of 3.0 m/s. In addition, mild objective increase in limb weakness was seen in only 1 of 8 patients and subjective symptoms of gradual worsening of leg strength were noted in half the patients over the same period. In this study of a small group of CMT1A patients with proven segmental duplication of chromosome 17p11.2p12, the motor conduction velocities and clinical motor exam did not change significantly over 22 years. © 1996 John Wiley & Sons, Inc.