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Volumn 6, Issue 2, 2007, Pages 192-198

Relapsing neuropathy in an 18-year-old woman

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; DIFFERENTIAL DIAGNOSIS; FEMALE; GASTROINTESTINAL SYMPTOM; GUILLAIN BARRE SYNDROME; HUMAN; LIMB WEAKNESS; MNGIE SYNDROME; NERVE CONDUCTION; NEUROLOGIC DISEASE; NEUROPATHY; PARESTHESIA; PRIORITY JOURNAL; PTOSIS; RELAPSE; REVIEW;

EID: 33846256616     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(07)70033-9     Document Type: Review
Times cited : (3)

References (49)
  • 1
    • 33846253403 scopus 로고    scopus 로고
    • Metabolic, endocrine and toxic disorders
    • Warlow C. (Ed), Elsevier, Edinburgh
    • Ginsberg L. Metabolic, endocrine and toxic disorders. In: Warlow C. (Ed). The Lancet handbook of treatment in neurology (2006), Elsevier, Edinburgh 339-363
    • (2006) The Lancet handbook of treatment in neurology , pp. 339-363
    • Ginsberg, L.1
  • 2
    • 0023551983 scopus 로고
    • Vitamin E and the nervous system
    • Harding A. Vitamin E and the nervous system. Crit Rev Neurobiol 3 (1987) 89-103
    • (1987) Crit Rev Neurobiol , vol.3 , pp. 89-103
    • Harding, A.1
  • 4
    • 0036797864 scopus 로고    scopus 로고
    • The neurology of gluten sensitivity: separating the wheat from the chaff
    • Wills A., and Unsworth D. The neurology of gluten sensitivity: separating the wheat from the chaff. Curr Opin Neurol 15 (2002) 519-523
    • (2002) Curr Opin Neurol , vol.15 , pp. 519-523
    • Wills, A.1    Unsworth, D.2
  • 6
    • 0000889058 scopus 로고    scopus 로고
    • α galactosidase A deficiency: Fabry disease
    • Scriver C., Beaudet A., Sly W., and Valle D. (Eds), McGraw-Hill, New York
    • Desnick R., Ioannou Y., and Eng C. α galactosidase A deficiency: Fabry disease. In: Scriver C., Beaudet A., Sly W., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8 edn. vol. 2 (2001), McGraw-Hill, New York 3733-3774
    • (2001) The metabolic and molecular bases of inherited disease. 8 edn. , vol.2 , pp. 3733-3774
    • Desnick, R.1    Ioannou, Y.2    Eng, C.3
  • 7
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A., Ricci R., Widmer U., et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widmer, U.3
  • 8
    • 0031800927 scopus 로고    scopus 로고
    • Quantitative analysis of cerebral vasculopathy in patients with Fabry disease
    • Crutchfield K., Patronas N., Dambrosia J., et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 50 (1998) 1746-1749
    • (1998) Neurology , vol.50 , pp. 1746-1749
    • Crutchfield, K.1    Patronas, N.2    Dambrosia, J.3
  • 10
    • 67649399035 scopus 로고    scopus 로고
    • Specific painful neuropathies
    • Cervero F., and Jensen T. (Eds), Elsevier, Edinburgh
    • Ginsberg L. Specific painful neuropathies. In: Cervero F., and Jensen T. (Eds). Handbook of clinical neurology, vol 81 Pain (2006), Elsevier, Edinburgh 635-652
    • (2006) Handbook of clinical neurology, vol 81 Pain , pp. 635-652
    • Ginsberg, L.1
  • 11
    • 0021823597 scopus 로고
    • The clinical spectrum of necrotizing angiopathy of the peripheral nervous system
    • Kissel J., Slivka A., Warmolts J., and Mendell J. The clinical spectrum of necrotizing angiopathy of the peripheral nervous system. Ann Neurol 18 (1985) 251-257
    • (1985) Ann Neurol , vol.18 , pp. 251-257
    • Kissel, J.1    Slivka, A.2    Warmolts, J.3    Mendell, J.4
  • 12
    • 52649178068 scopus 로고
    • Allergic granulomatosis, allergic angiitis, and periarteritis nodosa
    • Churg J., and Strauss L. Allergic granulomatosis, allergic angiitis, and periarteritis nodosa. Am J Pathol 27 (1951) 277-301
    • (1951) Am J Pathol , vol.27 , pp. 277-301
    • Churg, J.1    Strauss, L.2
  • 13
    • 0026160813 scopus 로고
    • Research criteria for diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP)
    • Ad Hoc Subcommittee of the American Academy of Neurology AIDS Task Force
    • Ad Hoc Subcommittee of the American Academy of Neurology AIDS Task Force. Research criteria for diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Neurology 41 (1991) 617-618
    • (1991) Neurology , vol.41 , pp. 617-618
  • 14
    • 0000460231 scopus 로고    scopus 로고
    • Chronic inflammatory demyelinating polyradiculoneuropathy
    • Mendell J., Kissel J., and Cornblath D. (Eds), Oxford University Press, Oxford
    • Kissel J., and Mendell J. Chronic inflammatory demyelinating polyradiculoneuropathy. In: Mendell J., Kissel J., and Cornblath D. (Eds). Diagnosis and management of peripheral nerve disorders (2001), Oxford University Press, Oxford 173-191
    • (2001) Diagnosis and management of peripheral nerve disorders , pp. 173-191
    • Kissel, J.1    Mendell, J.2
  • 15
    • 0021962477 scopus 로고
    • Ocular palsy preceding chronic relapsing polyneuropathy by several weeks
    • Donaghy M., and Earl C. Ocular palsy preceding chronic relapsing polyneuropathy by several weeks. Ann Neurol 17 (1985) 49-50
    • (1985) Ann Neurol , vol.17 , pp. 49-50
    • Donaghy, M.1    Earl, C.2
  • 16
    • 0028960241 scopus 로고
    • Acute, painful, pupil-involving third nerve palsy in chronic inflammatory demyelinating polyneuropathy
    • Arroyo J., and Horton J. Acute, painful, pupil-involving third nerve palsy in chronic inflammatory demyelinating polyneuropathy. Neurology 45 (1995) 846-847
    • (1995) Neurology , vol.45 , pp. 846-847
    • Arroyo, J.1    Horton, J.2
  • 17
    • 0023388347 scopus 로고
    • Evidence for central nervous system demyelination in chronic inflammatory demyelinating polyradiculoneuropathy
    • Mendell J., Kolkin S., Kissel J., Weiss K., Chakeres D., and Rammohan K. Evidence for central nervous system demyelination in chronic inflammatory demyelinating polyradiculoneuropathy. Neurology 37 (1987) 1291-1294
    • (1987) Neurology , vol.37 , pp. 1291-1294
    • Mendell, J.1    Kolkin, S.2    Kissel, J.3    Weiss, K.4    Chakeres, D.5    Rammohan, K.6
  • 18
    • 0025217895 scopus 로고
    • Central lesions in chronic inflammatory demyelinating polyneuropathy: an MRI study
    • Feasby T., Hahn A., Koopman W., and Lee D. Central lesions in chronic inflammatory demyelinating polyneuropathy: an MRI study. Neurology 40 (1990) 476-478
    • (1990) Neurology , vol.40 , pp. 476-478
    • Feasby, T.1    Hahn, A.2    Koopman, W.3    Lee, D.4
  • 19
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
    • Moser H. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120 (1997) 1485-1508
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.1
  • 20
    • 33748181416 scopus 로고    scopus 로고
    • Peripheral nerve diseases associated with mitochondrial respiratory chain dysfunction
    • Dyck P., and Thomas P. (Eds), Elsevier Saunders, Philadelphia
    • Hanna M., and Cudia P. Peripheral nerve diseases associated with mitochondrial respiratory chain dysfunction. In: Dyck P., and Thomas P. (Eds). Peripheral neuropathy. 4 edn. vol. 2 (2005), Elsevier Saunders, Philadelphia 1937-1949
    • (2005) Peripheral neuropathy. 4 edn. , vol.2 , pp. 1937-1949
    • Hanna, M.1    Cudia, P.2
  • 21
    • 1642451711 scopus 로고    scopus 로고
    • Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays
    • Martí R., Spinazzola A., Tadesse S., Nishino I., Nishigaki Y., and Hirano M. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem 50 (2004) 120-124
    • (2004) Clin Chem , vol.50 , pp. 120-124
    • Martí, R.1    Spinazzola, A.2    Tadesse, S.3    Nishino, I.4    Nishigaki, Y.5    Hirano, M.6
  • 22
    • 0025967112 scopus 로고
    • Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene
    • Hagiwara K., Stenman G., Honda H., et al. Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene. Mol Cell Biol 11 (1991) 2125-2132
    • (1991) Mol Cell Biol , vol.11 , pp. 2125-2132
    • Hagiwara, K.1    Stenman, G.2    Honda, H.3
  • 23
    • 1442328925 scopus 로고    scopus 로고
    • MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy
    • Bedlack R., Vu T., Hammans S., et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 29 (2004) 364-368
    • (2004) Muscle Nerve , vol.29 , pp. 364-368
    • Bedlack, R.1    Vu, T.2    Hammans, S.3
  • 24
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 25
    • 1642559369 scopus 로고    scopus 로고
    • Crystal structure of human thymidine phosphorylase in complex with a small molecule inhibitor
    • Norman R., Barry S., Bate M., et al. Crystal structure of human thymidine phosphorylase in complex with a small molecule inhibitor. Structure 12 (2004) 75-84
    • (2004) Structure , vol.12 , pp. 75-84
    • Norman, R.1    Barry, S.2    Bate, M.3
  • 26
    • 33745410626 scopus 로고    scopus 로고
    • Mitochondrial diseases
    • Schapira A. Mitochondrial diseases. Lancet 368 (2006) 70-82
    • (2006) Lancet , vol.368 , pp. 70-82
    • Schapira, A.1
  • 28
    • 0042632468 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
    • Taanman J.-W., Muddle J., and Muntau A. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 12 (2003) 1839-1845
    • (2003) Hum Mol Genet , vol.12 , pp. 1839-1845
    • Taanman, J.-W.1    Muddle, J.2    Muntau, A.3
  • 29
    • 0032529047 scopus 로고    scopus 로고
    • Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis
    • Brown N., and Bicknell R. Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis. Biochem J 334 (1998) 1-8
    • (1998) Biochem J , vol.334 , pp. 1-8
    • Brown, N.1    Bicknell, R.2
  • 30
    • 0034096975 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
    • Nishino I., Spinazzola A., Papadimitriou A., et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47 (2000) 792-800
    • (2000) Ann Neurol , vol.47 , pp. 792-800
    • Nishino, I.1    Spinazzola, A.2    Papadimitriou, A.3
  • 31
    • 21644445569 scopus 로고    scopus 로고
    • Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    • Ferraro P., Pontarin G., Crocco L., Fabris S., Reichard P., and Bianchi V. Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J Biol Chem 280 (2005) 24472-24480
    • (2005) J Biol Chem , vol.280 , pp. 24472-24480
    • Ferraro, P.1    Pontarin, G.2    Crocco, L.3    Fabris, S.4    Reichard, P.5    Bianchi, V.6
  • 32
    • 23644436319 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signaling
    • Spinazzola A., and Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354 (2005) 162-168
    • (2005) Gene , vol.354 , pp. 162-168
    • Spinazzola, A.1    Zeviani, M.2
  • 33
    • 0043027711 scopus 로고    scopus 로고
    • Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    • Van Goethem G., Schwartz M., Löfgren A., Dermaut B., Van Broeckhoven C., and Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 11 (2003) 547-549
    • (2003) Eur J Hum Genet , vol.11 , pp. 547-549
    • Van Goethem, G.1    Schwartz, M.2    Löfgren, A.3    Dermaut, B.4    Van Broeckhoven, C.5    Vissing, J.6
  • 34
    • 2142705756 scopus 로고    scopus 로고
    • POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    • Naviaux R., and Nguyen K. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55 (2004) 706-712
    • (2004) Ann Neurol , vol.55 , pp. 706-712
    • Naviaux, R.1    Nguyen, K.2
  • 35
    • 16844382687 scopus 로고    scopus 로고
    • Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
    • Winterthun S., Ferrari G., He L., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 64 (2005) 1204-1208
    • (2005) Neurology , vol.64 , pp. 1204-1208
    • Winterthun, S.1    Ferrari, G.2    He, L.3
  • 36
    • 4544273256 scopus 로고    scopus 로고
    • Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
    • Luoma P., Melberg A., Rinne J., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study. Lancet 364 (2004) 875-882
    • (2004) Lancet , vol.364 , pp. 875-882
    • Luoma, P.1    Melberg, A.2    Rinne, J.3
  • 37
    • 33646358693 scopus 로고    scopus 로고
    • Early-onset familial parkinsonism due to POLG mutations
    • Davidzon G., Greene P., Mancuso M., et al. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 59 (2006) 859-862
    • (2006) Ann Neurol , vol.59 , pp. 859-862
    • Davidzon, G.1    Greene, P.2    Mancuso, M.3
  • 38
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G., Dermaut B., Löfgren A., Martin J.-J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28 (2001) 211-212
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Löfgren, A.3    Martin, J.-J.4    Van Broeckhoven, C.5
  • 39
    • 33646859687 scopus 로고    scopus 로고
    • Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
    • Longley M., Clark S., Yu Wai Man C., et al. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78 (2006) 1026-1034
    • (2006) Am J Hum Genet , vol.78 , pp. 1026-1034
    • Longley, M.1    Clark, S.2    Yu Wai Man, C.3
  • 40
    • 0030753958 scopus 로고    scopus 로고
    • Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
    • Fadic R., Russell J., Vedanarayanan V., Lehar M., Kuncl R., and Johns D. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 49 (1997) 39-45
    • (1997) Neurology , vol.49 , pp. 39-45
    • Fadic, R.1    Russell, J.2    Vedanarayanan, V.3    Lehar, M.4    Kuncl, R.5    Johns, D.6
  • 41
    • 0037306061 scopus 로고    scopus 로고
    • Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
    • Van Goethem G., Martin J., Dermaut B., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13 (2003) 133-142
    • (2003) Neuromuscul Disord , vol.13 , pp. 133-142
    • Van Goethem, G.1    Martin, J.2    Dermaut, B.3
  • 42
    • 0028609471 scopus 로고
    • Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation
    • Hara H., Wakayama Y., Kouno Y., Yamada H., Tanaka M., and Ozawa T. Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation. J Neurol Neurosurg Psychiatry 57 (1994) 1545-1546
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 1545-1546
    • Hara, H.1    Wakayama, Y.2    Kouno, Y.3    Yamada, H.4    Tanaka, M.5    Ozawa, T.6
  • 43
    • 0020322459 scopus 로고
    • Prednisone-responsive hereditary motor and sensory neuropathy
    • Dyck P., Swanson C., Low P., Bartleson J., and Lambert E. Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc 57 (1982) 239-246
    • (1982) Mayo Clin Proc , vol.57 , pp. 239-246
    • Dyck, P.1    Swanson, C.2    Low, P.3    Bartleson, J.4    Lambert, E.5
  • 44
    • 0346097880 scopus 로고    scopus 로고
    • Coexistent hereditary and inflammatory neuropathy
    • Ginsberg L., Malik O., Kenton A., et al. Coexistent hereditary and inflammatory neuropathy. Brain 127 (2004) 193-202
    • (2004) Brain , vol.127 , pp. 193-202
    • Ginsberg, L.1    Malik, O.2    Kenton, A.3
  • 45
    • 3142540684 scopus 로고    scopus 로고
    • Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients
    • Martini R., and Toyka K. Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients. Lancet Neurol 3 (2004) 457-465
    • (2004) Lancet Neurol , vol.3 , pp. 457-465
    • Martini, R.1    Toyka, K.2
  • 46
    • 0023774277 scopus 로고
    • Changes of the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial, and trochlear nerves
    • Schröder J., Bohl J., and von Bardeleben U. Changes of the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial, and trochlear nerves. Acta Neuropathol (Berl) 76 (1988) 471-483
    • (1988) Acta Neuropathol (Berl) , vol.76 , pp. 471-483
    • Schröder, J.1    Bohl, J.2    von Bardeleben, U.3
  • 47
    • 33750306390 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
    • Hirano M., Martí R., Casali C., et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67 (2006) 1458-1460
    • (2006) Neurology , vol.67 , pp. 1458-1460
    • Hirano, M.1    Martí, R.2    Casali, C.3
  • 49
    • 33644871686 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine
    • Giordano C., Sebastiani M., Plazzi G., et al. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. Gastroenterology 130 (2006) 893-901
    • (2006) Gastroenterology , vol.130 , pp. 893-901
    • Giordano, C.1    Sebastiani, M.2    Plazzi, G.3


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