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

✍ Scribed by James M. Killian; Pinky S. Tiwari; Sheila Jacobson; Robert D. Jackson; James R. Lupski

• Book ID: 101253780
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 430 KB
• Volume: 19
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199601)19:1<74::aid-mus10>3.0.co;2-3

✦ Synopsis

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 17pl1.2p12. Results were compared for 8 CMTIA 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 CMTIA patients with proven segmental duplication of chromosome 17pl1.2p12, the motor conduction velocities and clinical motor exam did not change significantly over 22 years. 0