Foot pad skin biopsy in mouse models of hereditary neuropathy

GLIA

Volumn 58, Issue 16, 2010, Pages 2005-2016

  Dacci, Patrizia ^a   Dina, Giorgia ^a   Cerri, Federica ^a   Previtali, Stefano Carlo ^a   Lopez, Ignazio Diego ^a   Lauria, Giuseppe ^b   Feltri, Maria Laura ^c   Bolino, Alessandra ^a   Comi, Giancarlo ^a,d   Wrabetz, Lawrence ^c   Quattrini, Angelo ^a  

^a Division of Neuroscience and INSPE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

CMT; Dermal nerve; Epidermal nerve; Sural nerve

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE MODEL; ELECTRON MICROSCOPY; FOOT PAD; HEREDITARY MOTOR SENSORY NEUROPATHY; IMMUNOHISTOCHEMISTRY; MICROSCOPY; MOUSE; MUSCULAR DYSTROPHY; MYELINATED NERVE; NERVE FIBER; NEUROFILAMENT; NEUROPATHY; NONHUMAN; PRIORITY JOURNAL; SCIATIC NERVE; SKIN BIOPSY; SKIN NERVE;

ANIMALS; AXONS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; DERMIS; DISEASE MODELS, ANIMAL; EPIDERMIS; FOOT; HUMANS; MICE; MICE, NEUROLOGIC MUTANTS; MYELIN SHEATH; NERVE FIBERS, MYELINATED; SCIATIC NERVE; SURAL NERVE;

EID: 78649421805     PISSN: 08941491     EISSN: 10981136     Source Type: Journal    
DOI: 10.1002/glia.21069     Document Type: Article

References (43)

1. Barisic N, Claeys KG, Sirotkovic'-Skerlev M, Löfgren A, Nelis E, De Jonghe P, Timmerman V. 2008. Charcot-Marie-Tooth disease: A clinico-genetic confrontation. Ann Hum Genet 72:416-441.
2. Bianchi R, Buyukakilli B, Brines M, Savino C, Cavaletti G, Oggioni N, Lauria G, Borgna M, Lombardi R, Cimen B, Comelekoglu U, Kanik A, Tataroglu C, Cerami A, Ghezzi P. 2004. Erythropoietin both protects from and reverses experimental diabetic neuropathy. Proc Natl Acad Sci USA 10:823-828.
3. Bolino A, Bolis A, Previtali SC, Dina G, Bussino S, Dati G, Amadio S, Del Carro U, Mruk D, Feltri ML, Cheng Y, Quattrini A, Wrabetz L. 2004. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 167:711-721.
4. Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A. 2005. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci 25:8567-8577.
5. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. 2000. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26:370-374.
6. Chiorazzi A, Nicolini G, Canta A, Oggioni N, Rigolio R, Cossa G, Lombardi R, Roglio I, Cervellini I, Lauria G, Melcangi RC, Bianchi R, Crippa D, Cavaletti G. 2009. Experimental epothilone B neurotoxicity: Results of in vitro and in vivo studies. Neurobiol Dis 35:270-277.
7. Cleveland DW. 1999. From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS. Neuron 24:515-520.
8. Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, Broglio L, Granieri E, Lauria G. 2008. The diagnostic criteria for small fibre neuropathy: From symptoms to neuropathology. Brain 131:1912-1925.
9. Di Muzio A, De Angelis MV, Di Fulvio P, Ratti A, Pizzuti A, Stuppia L, Gambi D, Uncini A. 2003. Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve 27:500-506.
10. Frei R, Tzing SM, Kinkelin I, Schachner M, Koltzenburg M, Martini R. 1999. Loss of distal axons and sensory merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice. J Neurosci 19:6058-6067.
11. Giatti S, Pesaresi M, Cavaletti G, Bianchi R, Carozzi V, Lombardi R, Maschi O, Lauria G, Garcia-Segura LM, Caruso D, Melcangi RC. 2009. Neuroprotective effects of a ligand of translocator protein-18kDa (Ro5-4864) in experimental diabetic neuropathy. Neuroscience 164:520-529.
12. Holland NR, Stocks A, Hauer P, Cornblath DR, Griffin JW, McArthur JC. 1997. Intraepidermal nerve fiber density in patients with painful sensory neuropathy. Neurology 48:708-711.
13. Julien JP, Beaulieu JM. 2000. Cytoskeletal abnormalities in amyotrophic lateral sclerosis: Beneficial or detrimental effects? J Neurol Sci 180:7-14.
14. Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. 2000. Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy. Brain 123:222-233.
15. Kennedy WR, Wendelschafer-Crabb G. 1993. The innervation of human epidermis. J Neurol Sci 115:184-190.
16. Kennedy WR, Wendelschafer-Crabb G, Johnson T. 1996. Quantitation of epidermal nerves in diabetic neuropathy. Neurology 47:1042-1048.
17. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. 2000. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123:1516-1527.
18. La Monte BH, Wallace KE, Holloway BA, Shelly SS, Ascaño J, Tokito M, Van Winkle T, Howland DS, Holzbaur EL. 2002. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34:715-727.
19. Lauria G, Lombardi R. 2007. Skin biopsy: A new tool for diagnosing peripheral neuropathy. BMJ 334:1159-1162.
20. Lauria G, Lombardi R, Borgna M, Penza P, Bianchi R, Savino C, Canta A, Nicolini G, Marmiroli P, Cavaletti G. 2005. Intraepidermal nerve fiber density in rat footpad: Neuropathologic-neurophysiologic correlation. J Periph Nerv Syst 10:199-205.
21. Li Y, Bai Y, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu X, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. 2005. Skin biopsies in myelin-related neuropathies: Bringing molecular pathology to the bedside. Brain 128:1168-1177.
22. Lupski JR. 2000. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L). Am J Hum Genet 67:8-10.
23. Martini R. 2001. The effect of myelinating Schwann cells on axons. Muscle Nerve 24:456-466.
24. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. 2000. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament light gene. Am J Hum Genet 67:37-46.
25. Moore A, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamsonk RA, Hoshi T, Campbell KP. 2002. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418:422-425.
26. Navarro X, Verdú E, Wendelschafer-Crabb G, Kennedy WR. 1997. Immunohistochemical study of skin reinnervation by regenerative axons. J Comp Neurol 380:164-174.
27. Nave KA, Sereda MW, Ehrenreich H. 2007. Mechanisms of disease: Inherited demyelinating neuropathies-from basic to clinical research. Nat Clin Pract Neurol 3:453-464.
28. Nodari A, Previtali SC, Dati G, Occhi S, Court FA, Colombelli C, Zambroni D, Dina G, Del Carro U, Campbell KP, Quattrini A, Wrabetz L, Feltri ML. 2008. βet6α4 integrin and dystroglycan cooperate to stabilize the myelin sheath. J Neurosci 28:6714-6719.
29. Peles E, Nativ M, Lusting M, Grumet M, Shilling J, Martinez R, Plowman GD, Schlessinger J. 1997. Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interaction. EMBO J 16:978-988.
30. Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L. 2008. Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 57:393-405.
31. Polydefkis M, Hauer P, Griffin JW, McArthur JC. 2001. Skin biopsy as a tool to assess distal small fiber innervation in diabetic neuropathy. Diabetes Technol Ther 3:23-28.
32. Polydefkis M, Yiannoutsos CT, Cohen BA, Hollander H, Schifitto G, Clifford DB, Simpson DM, Katzenstein D, Shriver S, Hauer P, Brown A, Haidich AB, Moo L, McArthur JC. 2002. Reduced intraepidermal nerve fiber density in HIV-associated sensory neuropathy. Neurology 58:115-119.
33. Previtali SC, Quattrini A, Fasolini M, Panzeri MC, Villa A, Filbin MT, Li W, Chiu SY, Messing A, Wrabetz L, Feltri ML. 2000. Epitopetagged P0 glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice. J Cell Biol 151:1035-1045.
34. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH. 2003. Mutant dynactin in motor neuron disease. Nat Genet 33:455-456.
35. Quattrini A, Previtali S, Feltri ML, Canal N, Nemni R, Wrabetz L. 1996. β4 integrin and other schwann cell markers in axonal neuropathy. Glia 17:294-306.
36. Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F. 2006. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. Neurology 67:1141-1146.
37. Scherer SS, Wrabetz L. 2008. Molecular mechanisms of inherited demyelinating neuropathies. Glia 56:1578-1589.
38. Shy ME. 2004. Charcot-Marie-Tooth disease: An update. Curr Opin Neurol 17:579-585.
39. Triolo D, Dina G, Lorenzetti I, Malaguti MC, Morana P, Del Carro U, Comi G, Messing A, Quattrini A, Previtali SC. 2006. Loss of Glial Fibrillar Acidic Protein (GFAP) causes delayed functional and morphological recovery after peripheral nerve injury. J Cell Sci 119:3981- 3993.
40. Wrabetz L, D'Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previstali S, Imperiale D, Zielasek J, Toyka K, Avila RL, Kirschner DA, Messing A, Feltri ML, Quattrini A. 2006. Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 26:2358-2368.
41. Wrabetz L, Feltri ML, Quattrini A, Imperiale D, Previstali S, D'Antonio M, Martini R, Yin X, Trapp BD, Zhou L, Chiu S-Y, Messing A. 2000. P0 glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 148:1021-1033.
42. Wu G, Ringkamp M, Hartke TV, Murinson BB, Campbell JN, Griffin JW, Meyer RA. 2001. Early onset of spontaneous activity in uninjured C-fiber nociceptors after injury to neighboring nerve fibers. J Neurosci 21:RC140.
43. Yin X, Crawford TO, Griffin JW, Tu Ph, Lee VMY, Li C, Roder J, Trapp BD. 1998. Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons. J Neurosci 18:1953-1962.