Charcot-Marie-Tooth disease type 1A duplication: Spectrum of clinical and magnetic resonance imaging features in leg and foot muscles

Brain

Volumn 129, Issue 2, 2006, Pages 426-437

  Gallardo, Elena ^a   García, Antonio ^a   Combarros, Onofre ^a   Berciano, José ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

17p11.2 duplication; CMT 1A; Hereditary neuropathy; MRI; Muscle atrophy; Muscle denervation; Muscle fatty infiltration; Muscle oedema; Pes cavus

Indexed keywords

FAT; GADOLINIUM PENTETATE;

ADOLESCENT; ADULT; ANKLE; ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; CLUBFOOT; DISABILITY; DISEASE SEVERITY; EDEMA; ELECTRON SPIN RESONANCE; EXTENSOR MUSCLE; FATIGUE; FEMALE; FLEXOR MUSCLE; FOOT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEG CRAMP; LEG MUSCLE; MALE; MUSCLE ATROPHY; MUSCLE STRENGTH; MUTATION; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERONEUS MUSCLE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; RUNNING; SCHOOL CHILD; SCORING SYSTEM; SYMPTOMATOLOGY; TOE; WALKING;

ACTION POTENTIALS; ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; FEMALE; FOOT; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR NEURONS; MUSCLE, SKELETAL; NEURAL CONDUCTION;

EID: 31544441021     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awh693     Document Type: Article

References (39)

1. Alexander IJ, Johnson KA. Assessment and management of pes cavus in Charcot-Marie-Tooth disease. Clin Orthop Relat Res 1989; 246: 273-81.
2. Berciano J, Combarros O, Calleja J, Polo JM, Leno C. The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy. Muscle Nerve 1989; 12: 302-6.
3. Berciano J, García A, Calleja J, Combarros O. Clinico- electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscul Disord 2000; 10: 419-24.
4. Berciano J, García A, Combarros O. Initial semeiology in children with Charcot-Marie-Tooth disease. Muscle Nerve 2003; 27: 34-9.
5. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonabe T, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120: 813-23.
6. Buchthal F, Behse E. Peroneal muscular atrophy (PMA) and related disorders. 1. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977; 100: 41-66.
7. Combarros O, Calleja J, Figols J, Cabello A, Berciano J. Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families. J Neurol Sci 1983; 61: 181-91.
8. Davies DV, Coupland RE. Gray's anatomy. Descriptive and applied. London: Longmans; 1967. 727-36.
9. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968; 39: 1032-8.
10. Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 1989; 39: 1302-8.
11. Farber JM, Buckwalter KA. MR imaging in nonneoplastic muscle disorders of the lower extremity. Radiol Clin N Am 2002; 40: 1013-31.
12. Fleckenstein JL, Watumull D, Conner KE, Ezaki M, Greenlee RG Jr, Bryan WW, et al. Denervated human skeletal muscle: MR imaging evaluation. Radiology 1993; 187: 213-8.
13. Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, Jennekens FG, Janssen-van Kempen TW. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN) type 1. J Neurol Sci 1992; 107: 45-54.
14. Gabriel CM, Gregson NA, Wood NW, Hughes RAC. Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN type I). J Neurol Neurosurg Psychiatry 2002; 72: 230-5.
15. Garcia J. MRI in inflammatory myopathies. Skeletal Radiol 2000; 29: 425-38.
16. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology 1995; 45: 2090-3.
17. García A, Combarros O, Calleja J, Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in early infancy and childhood. A longitudinal clinical and electrophysiological study. Neurology 1998; 50: 1061-7.
18. Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, et al. Coexistent hereditary and inflammatory neuropathy. Brain 2004; 127: 193-202.
19. Guyton GP, Mann RA. The pathogenesis and surgical treatment of foot deformity in Charcot-Marie-Tooth disease. Foot Ankle Clin 2000; 5: 317-26.
20. Hallam PJ, Harding AE, Berciano J, Barker DF, Malcolm S. Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type I). Ann Neurol 1992; 31: 570-2.
21. Harding AE. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 1995; 118: 809-18.
22. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259-80.
23. Holmes JR, Hansen ST. Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993; 14: 477-86.
24. Hoogendijk J, de Visser M, Bolhuis PA, Hart AAM, Ongerboer de Visser BM. Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994; 17: 85-90.
25. Kaku DA, Parry GJ, Malamut R, Lupsky JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1993, 43: 2664-7.
26. Kendall HO, Kendall FP, Wadsworth GE. Músculos: pruebas y funciones. Barcelona: JIMS; 1974.
27. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neuronal dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123: 1516-27.
28. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219-32.
29. Mann RA, Missirian J. Pathophysiology of Charcot-Marie-Tooth disease. Clin Orthop Relat Res 1988; 234: 221-38.
30. May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ. Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls. RadoGraphics 2000; 20: S295-313.
31. Middleton-Price HR, Harding AE, Monteiro C, Berciano J, Malcolm S. Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Am J Hum Genet 1990; 46: 92-4.
32. Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies Neurology 1991; 41: 547-52.
33. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia). Neuromuscul Disord 1991; 1: 93-7.
34. Sabir M, Lyttle D. Pathogenesis of pes cavus in Charcot-Marie-Tooth disease. Clin Orthop Relat Res 1983; 175: 173-8.
35. 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: 1209-14.
36. Stilwell G, Kilcoyne RF, Sherman JL. Patterns of muscle atrophy in the lower limbs in patients with Charcot-Marie-Tooth disease as measured by magnetic resonance imaging. J Foot Ankle Surg 1995; 34: 583-6.
37. Tooth HH. The peroneal type of progressive muscular atrophy. London: H.K. Lewis; 1886.
38. Tynan MC, Klenerman L, Helliwell TR, Edwards RHT, Hayward M. Investigation of muscle imbalance in the leg symptomatic forefoot pes cavus: a multidisciplinary study. Foot Ankle 1992; 13: 490-501.
39. West GA, Haynor DR, Goodkin R, Tsuruda JS, Bronstein AD, Kraft G, et al. Magnetic resonance imaging signal changes in denervated muscles after peripheral nerve injury. Neurosurgery 1994; 35: 1077-85.