Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
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 tak...
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| Published in | Muscle & nerve Vol. 19; no. 1; pp. 74 - 78 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
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New York
John Wiley & Sons, Inc
01.01.1996
Wiley |
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| Abstract | 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. |
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| AbstractList | 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. 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. |
| Author | Jacobson, Sheila Killian, James M. Lupski, James R. Tiwari, Pinky S. Jackson, Robert D. |
| Author_xml | – sequence: 1 givenname: James M. surname: Killian fullname: Killian, James M. organization: Department of Neurology, Baylor College of Medicine, Houston, Texas – sequence: 2 givenname: Pinky S. surname: Tiwari fullname: Tiwari, Pinky S. organization: Department of Neurology, Baylor College of Medicine, Houston, Texas – sequence: 3 givenname: Sheila surname: Jacobson fullname: Jacobson, Sheila organization: Department of Neurology, Baylor College of Medicine, Houston, Texas – sequence: 4 givenname: Robert D. surname: Jackson fullname: Jackson, Robert D. organization: Department of Neurology, Baylor College of Medicine, Houston, Texas – sequence: 5 givenname: James R. surname: Lupski fullname: Lupski, James R. organization: Department of Neurology, Baylor College of Medicine, Houston, Texas |
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| Cites_doi | 10.1038/ng0692-176 10.1002/mus.880120110 10.1212/WNL.43.9.1806 10.1038/ng1292-288 10.1002/ana.410050604 10.1038/ng0492-29 10.1038/356241a0 10.1016/0168-9525(94)90214-3 10.1083/jcb.117.1.225 10.1056/NEJM199307083290205 10.1002/mus.880060708 10.1038/ng1193-269 10.1002/ana.410350412 10.1038/ng0692-159 10.1038/ng1292-292 10.1001/jama.1993.03510190082031 10.1016/0140-6736(92)90668-S 10.1073/pnas.89.10.4382 10.1016/0092-8674(91)90613-4 10.1212/WNL.39.10.1302 10.1038/ng1093-189 10.1038/ng0692-171 10.1212/WNL.13.1.1 10.1016/0960-8966(91)90055-W 10.1038/ng0692-166 10.1016/0166-2236(93)90015-E |
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| Keywords | 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 |
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Muscle Nerve 1983; 6: 515-519. 1991; 1 1993; 329 1983; 6 1993; 43 1975 1993 1991 1979 1993; 5 1963; 13 1989; 12 1993; 16 1991; 66 1992; 356 1993; 53 1979; 5 1993; 270 1992; 117 1994; 36 1992; 339 1994; 35 1992; 1 1992; 89 1992; 2 1989; 39 1994; 10 Dyck (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB3) 1989; 39 Valentijn (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB29) 1992; 2 Raeymaekers (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB18) 1991; 1 Lupski (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB11) 1991; 66 Suter (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB26) 1992; 356 Roy (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB23) 1989; 12 Patel (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB14) 1994; 10 Lupski (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB12) 1992; 1 Lupski (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB9) 1993; 270 Yoshikawa (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB32) 1994; 35 Suter (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB27) 1993; 16 Roa (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB20) 1993; 5 Killian (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB8) 1979; 5 Lupski (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB10) 1991 Roa (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB19) 1993; 5 Roa (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB22) 1994; 36 Suter (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB25) 1992; 89 Wise (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB31) 1993; 53 Snipes (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB24) 1992; 117 Dyck (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB1) 1975 Hoogendijk (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB6) 1992; 339 Pinelli (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB17) 1979 Valentijn (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB30) 1992; 1 Roa (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB21) 1993; 329 Dyck (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB2) 1993 Gutmann (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB5) 1983; 6 Pentao (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB16) 1992; 2 Patel (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB15) 1992; 1 Matsunami (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB13) 1992; 1 Timmerman (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB28) 1992; 1 Kaku (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB7) 1993; 43 Dyck (10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3-BIB4) 1963; 13 |
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| Snippet | This study presents a longitudinal comparison of motor nerve conduction velocities (MCVs) in patients with Charcot‐Marie‐Tooth type 1A with proven duplication... This study presents a longitudinal comparison of motor nerve conduction velocities (MCVs) in patients with Charcot-Marie-Tooth type 1A with proven duplication... |
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| SubjectTerms | 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 |
| Title | Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy |
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