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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Hereditary Motor and Sensory Neuropathies

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Disease relevance of Hereditary Motor and Sensory Neuropathies

  • We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies [1].
  • The patients with the G-insertion showed the clinical, electrophysiological and morphological characteristics of common HNPP, but in addition they had significantly more neuropathic features, mimicking hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) [2].
  • Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 [3].
  • In 5 cases showing neither duplication, deletion, nor a point mutation in the exons of the PMP-22 gene on heteroduplex DNA analysis, the histopathological findings strongly suggested a diagnosis of chronic inflammatory demyelinating polyneuropathy in 2 cases, and HMSN Ib, or HMSN non-a non-b, and HMSN III in 3 cases [4].
  • Twelve affected persons in the third decade of life or later, and the 14 nearest age- and sex-matched unaffected relatives, of a large kindred with autosomal dominant hereditary motor and sensory neuropathy not linked to the Duffy blood group (HMSN type IA) were assessed for arrhythmia and cardiomyopathy [5].

High impact information on Hereditary Motor and Sensory Neuropathies


Chemical compound and disease context of Hereditary Motor and Sensory Neuropathies

  • De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118 [11].
  • OBJECTIVE: To report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene [12].
  • The collagen fibrils that were present within the basal laminal tubes that had surrounded degenerated myelinated fibres in the diabetic nerves, and those within the onion bulbs of the HMSN cases, were of the normal endoneurial calibre [13].
  • Twenty-three cases of hereditary demyelinating neuropathies are reported, 13 with different types of hereditary motor and sensory neuropathy (HMSN) and 9 with globoid cell or meta-chromatic leucodystrophies [14].
  • Plasma glucosylceramide levels of 5 patients with Hereditary Motor and Sensory Neuropathy Type III (Dejerine-Sottas disease) were approximately 50% higher than in controls [15].

Biological context of Hereditary Motor and Sensory Neuropathies


Anatomical context of Hereditary Motor and Sensory Neuropathies


Gene context of Hereditary Motor and Sensory Neuropathies


Analytical, diagnostic and therapeutic context of Hereditary Motor and Sensory Neuropathies


  1. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Züchner, S., De Jonghe, P., Jordanova, A., Claeys, K.G., Guergueltcheva, V., Cherninkova, S., Hamilton, S.R., Van Stavern, G., Krajewski, K.M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C.T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J.M. Ann. Neurol. (2006) [Pubmed]
  2. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Lenssen, P.P., Gabreëls-Festen, A.A., Valentijn, L.J., Jongen, P.J., van Beersum, S.E., van Engelen, B.G., van Wensen, P.J., Bolhuis, P.A., Gabreëls, F.J., Mariman, E.C. Brain (1998) [Pubmed]
  3. Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Mariman, E.C., Gabreëls-Festen, A.A., van Beersum, S.E., Jongen, P.J., Ropers, H.H., Gabreëls, F.J. Hum. Genet. (1993) [Pubmed]
  4. PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. Thiex, R., Schröder, J.M. Acta Neuropathol. (1998) [Pubmed]
  5. Cardiomyopathy in patients with hereditary motor and sensory neuropathy. Dyck, P.J., Swanson, C.J., Nishimura, R.A., Kazmier, F.J., Lie, J.T. Mayo Clin. Proc. (1987) [Pubmed]
  6. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G.A., Ouvrier, R.A., Tachi, N. Nat. Genet. (1993) [Pubmed]
  7. Trembler mouse carries a point mutation in a myelin gene. Suter, U., Welcher, A.A., Ozcelik, T., Snipes, G.J., Kosaras, B., Francke, U., Billings-Gagliardi, S., Sidman, R.L., Shooter, E.M. Nature (1992) [Pubmed]
  8. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Delague, V., Bareil, C., Tuffery, S., Bouvagnet, P., Chouery, E., Koussa, S., Maisonobe, T., Loiselet, J., Mégarbané, A., Claustres, M. Am. J. Hum. Genet. (2000) [Pubmed]
  9. Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Middleton-Price, H.R., Harding, A.E., Monteiro, C., Berciano, J., Malcolm, S. Am. J. Hum. Genet. (1990) [Pubmed]
  10. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Bolino, A., Brancolini, V., Bono, F., Bruni, A., Gambardella, A., Romeo, G., Quattrone, A., Devoto, M. Hum. Mol. Genet. (1996) [Pubmed]
  11. De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118. Ikegami, T., Nicholson, G., Ikeda, H., Ishida, A., Johnston, H., Wise, G., Ouvrier, R., Hayasaka, K. Hum. Mutat. (1998) [Pubmed]
  12. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. Donaghy, M., Sisodiya, S.M., Kennett, R., McDonald, B., Haites, N., Bell, C. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  13. The extracellular matrix of peripheral nerve in diabetic polyneuropathy. Bradley, J.L., King, R.H., Muddle, J.R., Thomas, P.K. Acta Neuropathol. (2000) [Pubmed]
  14. Demyelinating hereditary neuropathies in children: a morphometric and ultrastructural study. Guzzetta, F., Rodríguez, J., Deodato, M., Guzzetta, A., Ferrière, G. Histol. Histopathol. (1995) [Pubmed]
  15. Lipid abnormalities in hereditary neuropathy. Part 3. Plasma and erythrocyte lipids of HMSN-III (Dejerine-Sottas disease). Yao, J.K., Dyck, P.J. J. Neurol. Sci. (1978) [Pubmed]
  16. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Harding, A.E. Brain (1995) [Pubmed]
  17. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Nicholson, G., Nash, J. Neurology (1993) [Pubmed]
  18. Membrane topology of peripheral myelin protein 22. Taylor, V., Zgraggen, C., Naef, R., Suter, U. J. Neurosci. Res. (2000) [Pubmed]
  19. Molecular cell biology of Charcot-Marie-Tooth disease. Berger, P., Young, P., Suter, U. Neurogenetics (2002) [Pubmed]
  20. Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. Taylor, V., Suter, U. Gene (1996) [Pubmed]
  21. Increased systemic B- and T-lymphocyte responses in hereditary motor and sensory neuropathy (HMSN I). Solders, G., Correale, J., Zhi, W., Höjeberg, B., Link, H., Olsson, T. J. Neurol. Sci. (1992) [Pubmed]
  22. Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. Cruz Martínez, A., Tejada, J. Electromyography and clinical neurophysiology. (1999) [Pubmed]
  23. The importance of quantitative electron microscopy in studying hypertrophic neuropathies. A comparison between a case of Déjérine Sottas disease (HMSN III) and a case of the hypertrophic form of Charcot-Marie-Tooth disease (HMSN I). Tredici, G., Petruccioli-Pizzini, M.G., Gergely, A., Coletti, A. International journal of tissue reactions. (1984) [Pubmed]
  24. Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family. Taylor, V., Welcher, A.A., Program, A.E., Suter, U. J. Biol. Chem. (1995) [Pubmed]
  25. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. De Jonghe, P., Timmerman, V., Nelis, E., De Vriendt, E., Löfgren, A., Ceuterick, C., Martin, J.J., Van Broeckhoven, C. Arch. Neurol. (1999) [Pubmed]
  26. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. Seeman, P., Mazanec, R., Ctvrtecková, M., Smilková, D. Int. J. Mol. Med. (2001) [Pubmed]
  27. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Auer-Grumbach, M., Wagner, K., Timmerman, V., De Jonghe, P., Hartung, H.P. Neurology (2000) [Pubmed]
  28. Distribution of PASII/PMP22 and connexin 32 proteins in the peripheral nervous system. Miyazaki, T., Takeda, Y., Murakami, Y., Kawano, H., Shimazu, T., Toya, S., Uyemura, K. Neurochem. Int. (1995) [Pubmed]
  29. Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study. Holmberg, B.H. Acta neurologica Scandinavica. (1993) [Pubmed]
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