Demyelinating polyneuropathy with focally folded myelin sheaths in a family of Miniature Schnauzer dogs

Journal of the Neurological Sciences

Volumn 275, Issue 1-2, 2008, Pages 100-105

  Vanhaesebrouck, An E ^a   Couturier, Jérôme ^b   Cauzinille, Laurent ^b   Mizisin, Andrew P ^c   Shelton, G Diane ^c   Granger, Nicolas ^a  

^a ECOLE NATIONALE VÉTÉRINAIRE D ALFORT   (France)

^b Fregis Referral Hospital   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Animal model; Demyelination; Dog; Peripheral neuropathy; Tomacula

Indexed keywords

ANIMAL TISSUE; ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; DOG; ELECTRON MICROSCOPY; ELECTRONYSTAGMOGRAPHY; ELECTROPHYSIOLOGY; GENE MUTATION; MALE; MUSCLE ACTION POTENTIAL; MYELIN SHEATH; NERVE BIOPSY; NONHUMAN; POLYNEUROPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE;

ANIMALS; DEMYELINATING DISEASES; DOG DISEASES; DOGS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MYELIN SHEATH; NEURAL CONDUCTION; PERIPHERAL NERVES;

EID: 55649083516     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.07.031     Document Type: Article

References (39)

1. Madrid R., and Bradley W.G. The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy). J Neurol Sci 25 (1975) 415-448
2. Sander S., Ouvrier R.A., McLeod J.G., Nicholson G.A., and Pollard J.D. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 68 4 (2000) 483-488
3. Behse F., Buchthal F., Carlsen F., and Knappeis G.G. Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Brain 95 4 (1972) 777-794
4. Berger P., Niemann A., and Suter U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 54 4 (2006) 243-257
5. Cai Z., Blumbergs P.C., Cash K., Rice P.J., MAnavis J., Swift J., et al. Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. J Clin Neurosci 13 (2006) 492-497
6. Hill B.D., Prior H., Blakemore W.F., and Black P.F. A study of pathology of a bovine primary peripheral myelinopathy with features of tomaculous neuropathy. Acta Neuropathol 91 5 (1996) 545-548
7. Cai Z., Finnie J.W., Blumbergs P.C., MAnavis J., Ghabriel M.N., and Thompson P.D. Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy. Exp Neurol 198 (2006) 65-71
8. Cummings J.F., Cooper B.J., de Lahunta A., and van Winkle T.J. Canine inherited hypertrophic neuropathy. Acta Neuropathol 53 2 (1981) 137-143
9. Sponenberg D.P., and deLahunta A. Hereditary hypertrophic neuropathy in Tibetan Mastiff dogs. J Heredity 72 4 (1981) 287
10. Braund K.G., Mehta J.R., Toivio-Kinnucan M., Amling K.A., Shell L.G., and Matz M.E. Congenital hypomyelinating polyneuropathy in two golden retriever littermates. Vet Pathol 26 3 (1989) 202-208
11. Dubowitz V., and Sewry C.A. Histological and histochemical stains and reactions. In: Dubowitz V. (Ed). Muscle biopsy. A practical approach (2007), Elsevier 21-40
12. Walker T.L., Redding R.W., and Braund K.G. Motor nerve conduction velocity and latency in the dog. Am J Vet Res 40 10 (1979) 1433-1439
13. Coates J.R., and O'Brien D.P. Inherited peripheral neuropathies in dogs and cats. Vet Clin North Am Small Anim Pract 34 6 (2004) 1361-1401
14. Aboussouan L.S., Lewis R.A., and Shy M.E. Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung 185 1 (2007) 1-7
15. Santoro L., Manganelli F., Di Maio L., Barbieri F., Carella M., D'Adamo P., et al. Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul Disord 12 4 (2002) 399-404
16. Suter U., and Scherer S.S. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4 9 (2003) 714-726
17. Braund K.G., Steinberg H.S., Shores A., Steiss J.E., Mehta J.R., Toivio-Kinnucan M., et al. Laryngeal paralysis in immature and mature dogs as one sign of a more diffuse polyneuropathy. J Am Vet Med Assoc 194 12 (1989) 1735-1740
18. Gaynor A.R., Shofer F.S., and Washabau R.J. Risk factors for acquired megaesophagus in dogs. J Am Vet Med Assoc 211 11 (1997) 1406-1412
19. Miller M.E. Miller's anatomy of the dog. 3rd ed. (1993), WB Saunders, Philadelphia
20. Fabrizi G.M., Taioli F., Cavallaro T., Rigatelli F., Simonati A., Mariani G., et al. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. Acta Neuropathol 100 3 (2000) 299-304
21. Kochanski A., Drac H., Kabzinska D., and Hausmanowa-Petrusewicz I. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. Neuromuscul Disord 14 3 (2004) 229-232
22. Nakagawa M., Suehara M., Saito A., Takashima H., Umehara F., Saito M., et al. A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. Neurology 52 6 (1999) 1271-1275
23. Fabrizi G.M., Cavallaro T., Taioli F., Orrico D., Morbin M., Simonati A., et al. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. Neurology 53 4 (1999) 846-851
24. Takashima H., Boerkoel C.F., De Jonghe P., Ceuterick C., Martin J.J., Voit T., et al. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 51 6 (2002) 709-715
25. Guilbot A., Williams A., Ravise N., Verny C., Brice A., Sherman D.L., et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 10 4 (2001) 415-421
26. Bolino A., Muglia M., Conforti F.L., Leguern E., Salih M.A., Georgiou D.M., et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25 1 (2000) 17-19
27. Conforti F.L., Muglia M., Mazzei R., Patitucci A., Valentino P., Magariello A., et al. A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). Neurology 63 7 (2004) 1327-1328
28. Nelis E., Erdem S., Tan E., Lofgren A., Ceuterick C., De Jonghe P., et al. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. Neuromuscul Disord 12 9 (2002) 869-873
29. Senderek J., Bergmann C., Weber S., Ketelsen U.P., Schorle H., Rudnik-Schoneborn S., et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 12 3 (2003) 349-356
30. Houlden H., King R.H., Wood N.W., Thomas P.K., and Reilly M.M. Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 124 Pt 5 (2001) 907-915
31. Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72 5 (2003) 1141-1153
32. Bergoffen J., Scherer S.S., Wang S., Scott M.O., Bone L.J., Paul D.L., et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262 5142 (1993) 2039-2042
33. Kovach M.J., Lin J.P., Boyadjiev S., Campbell K., Mazzeo L., Herman K., et al. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 64 6 (1999) 1580-1593
34. Thomas P.K., Marques Jr. W., Davis M.B., Sweeney M.G., King R.H., Bradley J.L., et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120 Pt 3 (1997) 465-478
35. Lewis R.A., Summer A.J., and Shy M.E. Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 23 (2000) 1472-1487
36. Li J., Krajewski K., Shy M.E., and Lewis R.A. Hereditary neuropathy with liability to pressure palsy. Neurology 58 (2002) 1769-1773
37. Li J., Krajewski K., Lewis R.A., and Shy M.E. Loss of function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 29 2 (2004) 205-210
38. Tyson J., Ellis D., Fairbrother U., King R.H., Muntoni F., Jacobs J., et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 120 Pt 1 (1997) 47-63
39. Pareyson D., Taroni F., Botti S., Morbin M., Baratta S., Lauria G., et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54 8 (2000) 1696-1698