Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 344-350

  Kumar, Neeraj ^a   Cole, Julie ^b   Parry, Gareth J ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MIDDLE AGED; MOTONEURON; PARALYSIS; PATHOPHYSIOLOGY; PERIPHERAL NERVE; PHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MOTOR NEURONS; PARALYSIS; PERIPHERAL NERVES;

EID: 0033554345     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08596.x     Document Type: Article

References (23)

1. CHANCE, P.F., M.K. ALDERSON, K.A. LEPPIG, et al. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
2. LUPSKI, J.R., R. MONTES DE OCA-LUNA, S. SLAUGENHAUPT, et al. 1992. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232.
3. TYSON, J., S. MALCOLM, P.K. THOMAS & A.E. HARDING. 1996. Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann. Neurol. 39: 180-186.
4. MERETOIA, P., K. SILANDER, H. KALIMO, et al. 1997. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in southwestern Finland. Neuromusc. Disord. 7: 529-532.
5. GABREËLS-FESTEN, A.A.W.M., F.J.M. GABREËLS, E.G.M, JOOSTEN, et al 1992. Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics 23: 138-143.
6. FELICE, K.J., R.M. POOLE, M. BLAIVAS, et al. 1994. Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur. Neurol. 34: 173-176.
7. MALANDRINI, A., G.C. GUAZZI & A. FEDERICO. 1992. Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin. Neuropathol. 11: 318-322.
8. MANCARDI, G.L., P. MANDICH, S. NASSANI, et al. 1995. Progressive sensorimotor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. J. Neurol. Sci. 131: 30-34.
9. LE FORESTIER, N., E. LEGUERN, P. COULLIN, et al. 1997. Recurrent polyradiculoneuropathy with 17p11.2 deletion. Muscle Nerve 20: 1184-1186.
10. JOY, J.L. & S.J. OH. 1989. Tomaculous neuropathy presenting as acute recurrent polyneuropathy. Ann. Neurol. 26: 98-100.
11. MARTINELLI, P., R. FABBRI, G. MORETTO, et al. 1989. Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy. Eur. Neurol. 29: 61-66.
12. BOSCH, E.P., H.C. CHUI, M.A. MARTIN, et al. 1980. Brachial plexus involvement in familial pressure-sensitive neuropathy: electrophysiological and morphological findings. Ann. Neurol. 8: 620-624.
13. STOGBAUER, F., PETER YOUNG, MAX KERSCHENSTEINER, et al. 1998. Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. Muscle Nerve 21: 1199-1201.
14. CHANCE, P.F., M.W. LENSCH, H. LIPE, et al. 1994. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 44: 2253-2257.
15. SHAIBANI, A., C. GOOCH & Y. HARATI. 1997. Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy. Muscle Nerve 20: 881-883.
16. TYSON, J., S. MALCOLM, P.K. THOMAS, et al. 1996. Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann. Neurol. 39: 180-186.
17. AMATO, A.A. & RICHARD J. BAROHN. 1996. Hereditary neuropathy with liability to pressure palsies: association with central nervous system demyelination. Muscle Nerve 19: 770-773.
18. GOUIDER, R., E. LEGUERN, M. GUGENHEIM, et al. 1995. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45: 2018-2023.
19. OHNISHI, A., LI LAN-YING, Y. FUKUSHIMA, et al. 1995. Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. Am. J. Med. Genet. 59: 51-58.
20. BEHSE, F., F. BUCHTHAL, F. CARLSEN, et al. 1972. Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95: 777-794.
21. DYCK, P.J., K.F. OVIATT & E.H. LAMBERT. 1981. Intensive evaluation of unclassified neuropathies yields improved diagnosis. Ann. Neurol. 10: 222-226.
22. MAGISTRIS, M.R. & G. ROTH. 1985. Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies. Neurology 35: 1639-1641.
23. SELLMAN, S.M. & R.F. MAYER. 1987. Conduction block in hereditary neuropathy with liability to pressure palsies. Muscle Nerve 10: 621-625.