Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP

Muscle and Nerve

Volumn 47, Issue 3, 2013, Pages 385-395

  Schreiber, Stefanie ^a   Oldag, Andreas ^a   Kornblum, Cornelia ^b   Kollewe, Katja ^c   Kropf, Siegfried ^a   Schoenfeld, Ariel ^a   Feistner, Helmut ^a   Jakubiczka, Sibylle ^a   Kunz, Wolfram S ^b   Scherlach, Cordula ^a   Tempelmann, Claus ^a   Mawrin, Christian ^a   Dengler, Reinhard ^c   Schreiber, Frank ^d   Goertler, Michael ^a   Vielhaber, Stefan ^a,e  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

CMT1A; CMT2A; HNPP; MFN2; Ultrasound

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; FOREARM; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; MALE; MEDIAN NERVE; NERVE CONDUCTION; NERVE FIBER; PRIORITY JOURNAL; WRIST;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGICAL PHENOMENA; FEMALE; FOREARM; GTP PHOSPHOHYDROLASES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; INTERNATIONAL CLASSIFICATION OF DISEASES; MALE; MEDIAN NERVE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MYELIN PROTEINS; NEURAL CONDUCTION; PHENOTYPE; WRIST; YOUNG ADULT;

EID: 84874262904     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23681     Document Type: Article

References (43)

1. Cartwright MS, Brown ME, Eulitt P, Walker FO, Lawson VH, Caress JB. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. Muscle Nerve 2009;40:98-102.
2. Hooper DR, Lawson W, Smith L, Baker SK. Sonographic features in hereditary neuropathy with liability to pressure palsies. Muscle Nerve 2011;44:862-867.
3. Martinoli C, Schenone A, Bianchi S, Mandich P, Caponetto C, Abbruzzese M, et al. Sonography of the median nerve in Charcot-Marie-Tooth disease. AJR Am J Roentgenol 2002;178:1553-1556.
4. Zaidman CM, Al Lozi M, Pestronk A. Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study. Muscle Nerve 2009;40:960-966.
5. Heinemeyer O, Reimers CD. Ultrasound of radial, ulnar, median, and sciatic nerves in healthy subjects and patients with hereditary motor and sensory neuropathies. Ultrasound Med Biol 1999;25:481-485.
6. Zuchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006;2:45-53.
7. Gabreels-Festen A, Wetering RV. Human nerve pathology caused by different mutational mechanisms of the PMP22 gene. Ann NY Acad Sci 1999;883:336-343.
8. Kumar N, Cole J, Parry GJ. Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition. Ann NY Acad Sci 1999;883:344-350.
9. Beekman R, Visser LH. Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies. J Clin Ultrasound 2002;30:433-436.
10. Hunderfund AN, Boon AJ, Mandrekar JN, Sorenson EJ. Sonography in carpal tunnel syndrome. Muscle Nerve 2011;44:485-491.
11. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214.
12. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 2009;80:1304-1314.
13. Stangler HS, Zagradisnik B, Erjavec SA, Zagorac A, Kokalj VN. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods. J Int Med Res 2009;37:1626-1631.
14. Zaidman CM, Holland MR, Anderson CC, Pestronk A. Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis. Muscle Nerve 2008;38:893-898.
15. Nakamichi K, Tachibana S. Ultrasonographic measurement of median nerve cross-sectional area in idiopathic carpal tunnel syndrome: diagnostic accuracy. Muscle Nerve 2002;26:798-803.
16. Peer S, Bodner G. High-resolution sonography of the peripheral nervous system. Berlin: Springer;2008.
17. Hobson-Webb LD, Massey JM, Juel VC, Sanders DB. The ultrasonographic wrist-to-forearm median nerve area ratio in carpal tunnel syndrome. Clin Neurophysiol 2008;119:1353-1357.
18. Ziswiler H, Reichenbach S, Vögelin E, Bachmann L, Villiger P, Jüni P. Diagnostic value of sonography in patients with suspected carpal tunnel syndrome: a prospective study. Arthritis Rheum 2005;52:304-311.
19. Reilly MM, De Jonghe P, Pareyson D. 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands. Neuromuscul Disord 2006;16:396-402.
20. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006;129:2103-2118.
21. Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006;129:2093-2102.
22. Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Phenotype expression in women with CMT1X. J Peripher Nerv Syst 2011;16:102-107.
23. Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999;52:1440-1446.
24. Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 1996;46:1133-1137.
25. Rempel D, Evanoff B, Amadio PC, de Krom M, Franklin G, Franzblau A, et al. Consensus criteria for the classification of carpal tunnel syndrome in epidemiologic studies. Am J Public Health 1998;88:1447-1451.
26. Sitarz K, Yu-Wai-Man P, Pyle A, Stewart J, Rautenstrauss B, Seeman P, et al. MFN2 mutations cause compensatory mitochondrial DNA proliferation. Brain 2012;135:e219.
27. Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, et al. Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med Genet 2006;7:53.
28. Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, et al. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 2008;70:1678-1681.
29. Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS. Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol 2012 Aug 28. [Epub ahead of print].
30. McCorquodale DS III, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, et al. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. J Neurol 2011;258:1234-1239.
31. Polke JM, Laura M, Pareyson D, Taroni F, Milani M, Bergamin G, et al. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology 2011;77:168-173.
32. Schroder JM. Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromol Med 2006;8:23-42.
33. Sorour E, Thompson P, MacMillan J, Upadhyaya M. Inheritance of CMT1A duplication from a mosaic father. J Med Genet 1995;32:483-485.
34. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003;126:134-151.
35. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000;123:1516-1527.
36. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1993;43:2664-2667.
37. Krampitz DE, Wolfe GI, Fleckenstein JL, Barohn RJ. Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. Neurology 1998;51:1508-1509.
38. Lewis RA, Sumner AJ, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 2000;23:1472-1487.
39. Del Bo R, Moggio M, Rango M, Bonato S, D'Angelo MG, Ghezzi S, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 2008;71:1959-1966.
40. Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008;67:1097-1102.
41. Cavalcanti F, Kidd T, Patitucci A, Valentino P, Bono F, Nistico R, et al. An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. J Neurogenet 2009;23:324-328.
42. Fischbeck KH, Abel A, Lin GS, Scherer SS. X-linked Charcot-Marie-Tooth disease and connexin32. Ann NY Acad Sci 1999;883:36-41.
43. Hughes RA. Epidemiology of peripheral neuropathy. Curr Opin Neurol 1995;8:335-338.