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Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation

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Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. Two young adult patients are reported as index cases of two families in which HNPP was diagnosed. The first patient presented with recurrent pressure palsies, whereas the second suffered from fasciculations and myokymias in his right hand, with difficulty in writing, and upper and lower limb paraesthesias of 3 years' duration. Electrodiagnostic studies revealed slowing of conduction primarily in common sites of compression in both patients. Sural nerve biopsy revealed the characteristic tomaculous swellings in both patients. DNA analysis showed that both patients have a deletion in chromosome 17p11.2 which is found in the majority of HNPP cases. In light of the common molecular defect, the different clinical symptomatology of the two patients is discussed.

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References

  1. Behse F, Buchtal F, Carlsen F, Knappeis GG (1972) Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Brain 95: 777–794

    PubMed  Google Scholar 

  2. Chance PF, Alderson MK, Lepping KA, Lensch MW, Matsunami M, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion assosiated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143–151

    PubMed  Google Scholar 

  3. Chance PF, Abbas N, Lensh W, Pentao L, Roa B, Patel P, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication / deletion of a region on chromosome 17. Hum Mol Genet 3: 223–228

    PubMed  Google Scholar 

  4. Chance PF, Lensch MW, Lipe H, Brown RH Sr, Brown RH Jr, Bird TD (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 44: 2253–2257

    PubMed  Google Scholar 

  5. Davies DM (1954) Recurrent peripheral nerve palsies in a family. Lancet II: 266–268

    Google Scholar 

  6. De Jong JGY (1947) About families with hereditary predisposition to neuritides, that corresponds to migraine (in Dutch). Psychiatr Neurol BI (Amsterdam) 50: 60–76

    Google Scholar 

  7. Earl CJ, Fullerton PM, Wakefield GS, Schutta HS (1964) Hereditary neuropathy with liability to pressure palsies. Q J Med 132: 481–498

    Google Scholar 

  8. Felice KJ, Poole RM, Blaivas M, Albers JW (1994) Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur Neurol 34: 173–176

    PubMed  Google Scholar 

  9. Gabreëls-Fasten AAWM, Joosten EMG, Gabreëls FJM, Stegeman DF, Vos AJM, Busch HFM (1990) Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 113: 1629–1643

    PubMed  Google Scholar 

  10. Lupski JR, Montes de Oca-Luna M, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B, Saucedo-Cardenas O, Barker D, Killian J, Garcia C, Chakravarti A, Patel P (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1a. Cell 66: 219–232

    PubMed  Google Scholar 

  11. Madrid R, Bradley WG (1975) 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 25: 415–448

    Google Scholar 

  12. Madrid R, Bradley WG, Davis CJF (1977) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathologic changes in sural nerve biopsies. J Neuro1 Sci 32: 91–122

    Google Scholar 

  13. Malandrini A, Guazzi GC, Federico A (1992) Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 11: 318–322

    PubMed  Google Scholar 

  14. Mariman ECM, Gabreëls-Festen AAWM, Beersum SEC van, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJH, Ropers HH, Gabreëls FJM (1994) Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 36: 650–655

    PubMed  Google Scholar 

  15. Matsunami N, Smith B, Ballard L, Lensch W, Robertson M, Albertsen H, Hanemann O, Muller H, Bird T, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet 1: 176–179

    PubMed  Google Scholar 

  16. Neary D, Ochoa J, Gillatt RW (1975) Subclinical entrapment neuropathy in man. J Neurol Sci 24: 283–298

    Google Scholar 

  17. Nicholson GA, Valentijn L, Cherryson AK, Kennerson M, Bragg T, Dekroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F (1994) A frame shift mutation in the PMP-22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet 6: 263–266

    PubMed  Google Scholar 

  18. Pellissier JF, Pouget J, Victor B de, Serratrice G, Toga M (1987) Neuropathie tomaculaire. Étude histopathologique et corrélations électrocliniques dans 10 cas. Rev Neurol (Paris) 143: 263–278

    Google Scholar 

  19. Raine CS, Bornstein MB (1979) Experimental allergic neuritis. Ultrastructure of serum-induced myelin aberrations in peripheral nervous system cultures. Lab Invest 40: 423–432

    PubMed  Google Scholar 

  20. Rayemaekers P, Timmerman V, Nelis E, De Jongte P, Hoogendijk J, Baas F, Barker D, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991) Duplication in chromosome 17pl1.2 in Charcot-Marie-Tooth neuropathy type 1A. Neuromust Dis 1: 93–97

    Google Scholar 

  21. Rebai T, Mhiri C, Heine P, Charfi H, Meyrignac C, Gherardi R (1989) Focal myelin thicenings in a peripheral neuropathy associated with IgM monoclonal gammopathy. Acta Neuropathol 79: 226–232

    PubMed  Google Scholar 

  22. Roth G, Magistris MR (1987) Neuropathies with prolonged conduction block, single and grouped fasciculations, localized limb myokymia. Electroencephalogr Clin Neurophysiol 67: 428–438

    PubMed  Google Scholar 

  23. Sugimura K, Takahashi A, Watanabe M, Mano K, Watanabe H (1990) Demyelinating changes in sural nerve biopsy of patients with HTLV-1 associated myelopathy. Neurology 40: 1263–1266

    PubMed  Google Scholar 

  24. Uncini A, Di Guglielmo G, Di Muzio A, Gambi D, Sabatelli M, Mignogna T, Tonah P, Marzella R, Finelli P, Archidiacono N (1995) Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication. Muscle Nerve 18: 628–635

    PubMed  Google Scholar 

  25. Valentijn L, Baas F, Wolterman R, Hoogendijk J, Van den Bosch NHA, Gabreëls-Festen AWM, Visser M de, Bolhuis P (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 2: 288–291

    PubMed  Google Scholar 

  26. Van Wensen PJM (1991) Hereditary neuropathy with liability to pressure palsies. In: De Jong JMBV (ed) Handbook of clinical neurology, vol 16 (60). Hereditary neuropathies and spinocerebellar atrophies. Amsterdam, Elsevier Science Publishers, pp 61–70

    Google Scholar 

  27. Verhagen WIM, Gabreëls-Festen AAWM, Wensen PJM van, Joosten EMG, Vingerhoets HM, Gabreëls FJM, Graaf R de (1993) Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci 116: 176–184

    PubMed  Google Scholar 

  28. Windebank AJ (1993) Inherited recurent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al (eds) Peripheral neuropathy, vol 2. Saunders, Philadelphia, pp 1137–1148

    Google Scholar 

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Authors and Affiliations

  1. Eginition Hospital, Department of Neurology, University of Athens, 74, Vas. Sophias Avenue, 11528, Athens, TK, Greece

    Elisabeth Andreadou, Christos Yapijakis, George P. Paraskevas, Panagiotis Stavropoulos, Charalambos Karadimas, Vassilios Panagiotis Zis, Panagiota Davaki, Nicos Karandreas, Michael Rentzos, Constantinos Tsakanikas, Demetrios Vassilopoulos & Constantinos Papageorgiou

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  1. Elisabeth Andreadou
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  2. Christos Yapijakis
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  3. George P. Paraskevas
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  4. Panagiotis Stavropoulos
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  5. Charalambos Karadimas
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  6. Vassilios Panagiotis Zis
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  8. Nicos Karandreas
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  12. Constantinos Papageorgiou
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Andreadou, E., Yapijakis, C., Paraskevas, G.P. et al. Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. J Neurol 243, 225–230 (1996). https://doi.org/10.1007/BF00868518

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  • DOI: https://doi.org/10.1007/BF00868518

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