Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

Muscle and Nerve

Volumn 29, Issue 2, 2004, Pages 205-210

  Li, Jun ^a   Krajewski, Karen ^a   Lewis, Richard A ^a   Shy, Michael E ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; Hereditary neuropathy with liability to pressure palsies; Nerve conduction study; Phenotype; PMP22

Indexed keywords

MYELIN; MYELIN PROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE DELETION; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; MALE; MUSCLE WEAKNESS; MYELINATED NERVE; NERVE COMPRESSION; NERVE CONDUCTION; NERVE POTENTIAL; NEUROLOGIC EXAMINATION; PARALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PMP22 GENE; POLYNEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY DYSFUNCTION; SENSORY NERVE;

ADOLESCENT; ADULT; AGED; CHILD; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MYELIN PROTEINS; NEURAL CONDUCTION; PARALYSIS; PHENOTYPE; PRESSURE; PROSPECTIVE STUDIES; SENSATION;

EID: 0842304504     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10521     Document Type: Article

References (40)

1. Adlkofer K, Frei R, Neurberg DHH, Zielasek J, Toyka KV, Suter U. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci 1997;17:4662-4671.
2. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U. Hypermyelination and demyelinating peripheral neuropathy in PMP-22-deficient mice. Nat Genet 1995;11:274-280.
3. Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ. Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 1996;19:16-22.
4. Andersson PB, Yuen E, Parko K, So YT. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000;54:40-44.
5. Behse F, Buchthal F, Carlsen F, Knappeis GG. Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 1972;95:777-794.
6. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-151.
7. Cornblath DR, Sumner AJ, Daube J, Gilliatt RW, Brown WF, Parry GJ, Albers JW, Miller RG, Petajan J. Conduction block in clinical practice. Muscle Nerve 1991;14:869-871.
8. De Jong JGY. Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine. Psychiatr Neurol Bladen 1947;50:60-76.
9. Dubi J, Regli F, Bischoff A, Schneider C, de Crousaz G. Recurrent familial neuropathy with liability to pressure palsies: report of two cases and ultrastructtiral nerve study. J Neurol 1979;220:43-55.
10. Dyck PJ, Kratz KM, Karnes JL, Litchy WJ, Klein R, Pach JM, Wilson DM, O'Brien PC, Melton LJ III, Service FJ. The prevalence by staged severity of various types of diabetic neuropathy, retinopathy and nephropathy in a population-based cohort: the Rochester Diabetic Neuropathy Study. Neurology 1993;43:817-824.
11. Earl CJ, Fullerton PM, Wakefield GS. Hereditary neuropathy with liability to pressure palsies: a clinical and electrophysiological study of four families. Q J Med 1964;33:481-498.
12. Felice KJ, Poole RM, Blaivas M, Albers JW. Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur Neurol 1994;34:173-176.
13. Fewings JD, Mukherjee TM, Blumbergs PC, Hallpike JF. Tomaculous neuropathy: hereditary predisposition to pressure palsies. Aust NZ J Med 1985;15:598-603.
14. Gabreels-Festen A, van de Wetering R. Human nerve pathology caused by different mutational mechanisms of the PMP22 gene. Ann NY Acad Sci 1999;883:336-343.
15. Gouider R, LeGuern E, Gugenheim M, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A. Clinical electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 1995;45:2018-2023.
16. Infante J, Garcia A, Combarros O, Mateo JI, Berciano J, Sedano MJ, Gutierrez-Rivas EJ, Palau F. Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p12.2 deletion. Muscle Nerve 2001;24:1149-1155.
17. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 2001;11:1018-1033.
18. Kaji R. Physiology of conduction block in multifocal motor neuropathy and other demyelinating neuropathies. Muscle Nerve 2003;27:285-296.
19. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000;123:1516-1527.
20. 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;883:345-349.
21. 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.
22. Li J, Krajewski KM, Shy ME, Lewis RA. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002;58:1769-1773.
23. Lupski JR, Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
24. Madrid R, Bradley WG. The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy), studies on the formation of the abnormal myelin sheath. J Neurol Sci 1975;25:415-448.
25. Malandrini A, Guazzi GC, Federico A. Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 1992;11:318-322.
26. Mancardi GL, Mandich P, Nassani S, Schenone A, James R, Defferrari R, Bellone E, Giunchedi M, Ajmar F, Abbruzzese M. Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. J Neurol Sci 1995;131:30-34.
27. Martinez CA, Conde PMC, Cajal RYS, Martinez A. Recurrent familial polyneuropathy with liability to pressure palsies: special regards to electrophysiological aspects of 25 members from 7 families. Electromyogr Clin Neurophysiol 1997;17:101-124.
28. Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999;52:1440-1446.
29. Muller HW. New vistas on the pathomechanism of Charcot-Marie-Tooth and related peripheral neuropathies. Ann N Y Acad Sci 1999;883:152-159.
30. Naef R, Adlkofer K, Lescher B, Suter U. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol Cell Neurosci 1997;9:13-25.
31. Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 1996;46:1133-1137.
32. Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet 1995;59:5-11.
33. Sander S, Ouvrier RA, McLeod JG, Nicholson GA, Pollard JD. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 2000;68:483-488.
34. Sereda M, Griffiths I, Puhlhofer A, Stewart H, Rossner MJ, Zimmerman F, Magyar JP, Schneider A, Hund E, Meinck HM, Suter U, Nave KA. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996;16:1049-1060.
35. Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies; a biological perspective. Lancet Neurol 2002;1:110-118.
36. Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR. Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Arch Neurol 2001;58:1635-1637.
37. Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
38. Vallat JM, Sindou P, Preux PM, Tabaraud F, Milor AM, Couratier P, LeGuern E, Brice A. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996;39:813-817.
39. Verhagen WIM, Gabreels-Festen PJM, van Wensen PJM, Joosten EM, Vingerhoets HM, Gabreels FJ, de Graaf R. Hereditary neuropathy with liability to pressure palsies: a clinical, electrophysiological and morphological study. J Neurol Sci 1993;116:176-184.
40. Yoshikawa H, Dyck PJ. Uncompacted inner myelin lamellae in inherited tendency to pressure palsy. J Neuropathol Exp Neurol 1991;50:649-657.