Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy

Muscle and Nerve

Volumn 21, Issue 12, 1998, Pages 1686-1691

  Pareyson, Davide ^a   Solari, Alessandra ^a   Taroni, Franco ^a   Botti, Sara ^a   Fallica, Elisa ^a   Scaioli, Vidmer ^a   Ciano, Claudia ^a   Sghirlanzoni, Angelo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Hereditary neuropathy; HNPP; Mononeuropathy; Plexopathy; PMP22

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIRTH INJURY; BRACHIAL PLEXUS; CLINICAL ARTICLE; FEMALE; GENE DELETION; HUMAN; ITALY; MALE; MONONEUROPATHY; NERVE PLEXUS; NEUROPATHY; PARALYSIS; PRIORITY JOURNAL;

ACTION POTENTIALS; ACUTE DISEASE; ADOLESCENT; ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MYELIN PROTEINS; NERVOUS SYSTEM DISEASES; NEURAL CONDUCTION; NEURONS, AFFERENT; PARALYSIS; PRESSURE; REFLEX, STRETCH;

EID: 0031760676     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199812)21:12<1686::AID-MUS10>3.0.CO;2-Z     Document Type: Article

References (20)

1. Berry H, Richardson PM: Common peroneal nerve palsy: a clinical and electrophysiological review. J Neurol Neurosurg Psychiatry 1976;39:1162-1171.
2. 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.
3. Chaudry V, Corse AM, Cornblath DR, Kuncl RW, Freimer ML, Griffin JW: Multifocal motor neuropathy: electrodiagnostic features. Muscle Nerve 1994;17:198-205.
4. Dockhorn-Dworniczak B, Dworniczak B, Brömmelkamp L, Bulles J, Horst J, Böcker WW: Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucleic Acids Res 1991;19:2500.
5. Dyck PJ, Oviatt KF, Lambert EH: Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 1981;10:222-226.
6. Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Léger JM, Vallat JM, 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.
7. Grompe M: The rapid detection of unknown mutations in nucleic acids. Nat Genet 1993;5:111-117.
8. Katirji MB, Wilbourn AJ: Common peroneal mononeuropathy: a clinical and electrophysiologic study of 116 lesions. Neurology 1988;38:1723-1728.
9. Kimura J: Electrodiagnosis in Diseases of Nerve and Muscles: Principles and Practice, 2nd ed. Philadelphia, FA. Davis, 1989.
10. Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR: A 1.5 Mb deletion in 17pll.2-pl2 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
11. Marazzi R, Pareyson D, Scaioli V, Corbo M, Boiardi A, Chiodelli G, Sghirlanzoni A: Recurrent familial neuropathy due to liability to pressure palsies. Ital J Neurol Sci 1988;9:355-363.
12. Mariman ECM, Gabreëls-Festen AAWM, van Beersum SEC, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJH, Ropers HH, Gabreēls FJM: Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994;36:650-655.
13. Nelis E, Van Broeckhoven C, De Jonghe P, et al.: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4:25-33.
14. Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F: A frame shift mutation in the PMP-22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994;6:263-266.
15. Oh SJ, Kim DE, Kuruoglu HR: What is the best diagnostic index of conduction block and temporal dispersion? Muscle Nerve 1994;17:489-493.
16. 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.
17. Pareyson D, Taroni F: Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. Curr Opin Neurol 1996;9:348-354
18. Sotianemi K: Summer's paralysis: peroneal neuropathy during weight reduction. J Neurol Neurosurg Psychiatry 1984;47: 564-566.
19. Stewart JD: Compression and entrapment neuropathies, in Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy, 3rd ed. Philadelphia, WB Saunders, 1993, pp 961-979.
20. Thomas PK, Ochoa J: Clinical features and differential diagnosis, in Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy, 3rd ed. Philadelphia, WE Saunders, 1993, pp 749-774.