메뉴 건너뛰기




Volumn 30, Issue 5, 2007, Pages 642-653

Peripheral neuropathy and inborn errors of metabolism in adults

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTILIPEMIC AGENT; BETAINE; BIOTIN; CHENODEOXYCHOLIC ACID; CREATINE; CYANOCOBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; LORENZO OIL; MIGLUSTAT; ORNITHINE; PENICILLAMINE; PROLINE; PYRIDOXINE; SERINE; ZINC SULFATE;

EID: 35248885593     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0684-x     Document Type: Review
Times cited : (36)

References (45)
  • 1
    • 0031737638 scopus 로고    scopus 로고
    • Clinical approach to inherited peroxisomal disorders: A series of 27 patients
    • Baumgartner MR, Poll-The BT, Verhoeven NM, et al (1998a) Clinical approach to inherited peroxisomal disorders: A series of 27 patients. Ann Neurol 44: 720-730.
    • (1998) Ann Neurol , vol.44 , pp. 720-730
    • Baumgartner, M.R.1    Poll-The, B.T.2    Verhoeven, N.M.3
  • 2
    • 0031771842 scopus 로고    scopus 로고
    • Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease
    • Baumgartner MR, Verhoeven NM, Jakobs C, et al (1998b) Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology 51: 1427-1432.
    • (1998) Neurology , vol.51 , pp. 1427-1432
    • Baumgartner, M.R.1    Verhoeven, N.M.2    Jakobs, C.3
  • 3
    • 0035942363 scopus 로고    scopus 로고
    • Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)
    • Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 56: 1113.
    • (2001) Neurology , vol.56 , pp. 1113
    • Bodamer, O.A.1    Rosenblatt, D.S.2    Appel, S.H.3    Beaudet, A.L.4
  • 4
    • 0027467081 scopus 로고
    • E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy
    • Bonne G, Benelli C, De Meirleir L, et al (1993) E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. Pediatr Res 33: 284-288.
    • (1993) Pediatr Res , vol.33 , pp. 284-288
    • Bonne, G.1    Benelli, C.2    De Meirleir, L.3
  • 7
    • 0030987819 scopus 로고    scopus 로고
    • The little imitator - Porphyria: A neuropsychiatric disorder
    • Crimlisk HL (1997) The little imitator - porphyria: A neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 62: 319-328.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 319-328
    • Crimlisk, H.L.1
  • 8
    • 33744471151 scopus 로고    scopus 로고
    • Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency
    • Debray FG, Lambert M, Vanasse M, et al (2006) Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr 165: 462-466.
    • (2006) Eur J Pediatr , vol.165 , pp. 462-466
    • Debray, F.G.1    Lambert, M.2    Vanasse, M.3
  • 9
    • 0032904554 scopus 로고    scopus 로고
    • Continuing education in neurometabolic disorders - Serine deficiency disorders
    • De Kooning TJ, Poll-The BT, Jaeken J (1999) Continuing education in neurometabolic disorders - serine deficiency disorders. Neuropediatrics 30: 1-4.
    • (1999) Neuropediatrics , vol.30 , pp. 1-4
    • De Kooning, T.J.1    Poll-The, B.T.2    Jaeken, J.3
  • 10
    • 0033010108 scopus 로고    scopus 로고
    • Classification and clinical features of motor neurone diseases and motor neuropathies in adults
    • Donaghy M (1999) Classification and clinical features of motor neurone diseases and motor neuropathies in adults. J Neurol 246: 331-333.
    • (1999) J Neurol , vol.246 , pp. 331-333
    • Donaghy, M.1
  • 11
    • 3042567009 scopus 로고    scopus 로고
    • Peripheral neuropathy
    • England JD, Asbury AK (2004) Peripheral neuropathy. The Lancet 363: 2151-2161.
    • (2004) The Lancet , vol.363 , pp. 2151-2161
    • England, J.D.1    Asbury, A.K.2
  • 12
    • 0033973970 scopus 로고    scopus 로고
    • Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
    • Ferdinandusse S, Denis S, Clayton PT, et al (2000) Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 24: 188-191.
    • (2000) Nat Genet , vol.24 , pp. 188-191
    • Ferdinandusse, S.1    Denis, S.2    Clayton, P.T.3
  • 13
    • 0026638338 scopus 로고
    • Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy
    • Fressinaud C, Vallat JM, Masson M, et al (1992) Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy. Neurology 42: 1396-1398.
    • (1992) Neurology , vol.42 , pp. 1396-1398
    • Fressinaud, C.1    Vallat, J.M.2    Masson, M.3
  • 15
    • 0032531101 scopus 로고    scopus 로고
    • Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
    • Ibdah JA, Tein I, Dionisi-Vici C, et al (1998) Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 102: 1193-1199.
    • (1998) J Clin Invest , vol.102 , pp. 1193-1199
    • Ibdah, J.A.1    Tein, I.2    Dionisi-Vici, C.3
  • 16
    • 26444474620 scopus 로고    scopus 로고
    • Wilson disease with an initial manifestation of polyneuropathy
    • Jung KH, Ahn TB, Jeon BS (2005) Wilson disease with an initial manifestation of polyneuropathy. Arch Neurol 62: 1628-1631.
    • (2005) Arch Neurol , vol.62 , pp. 1628-1631
    • Jung, K.H.1    Ahn, T.B.2    Jeon, B.S.3
  • 17
    • 33646398861 scopus 로고    scopus 로고
    • Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
    • Kaufmann P, Pascual JM, Anziska Y, et al (2006) Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Arch Neurol 63: 746-748.
    • (2006) Arch Neurol , vol.63 , pp. 746-748
    • Kaufmann, P.1    Pascual, J.M.2    Anziska, Y.3
  • 18
    • 12344254822 scopus 로고    scopus 로고
    • Porphyrias
    • Kauppinen R (2005) Porphyrias. Lancet 365: 241-252.
    • (2005) Lancet , vol.365 , pp. 241-252
    • Kauppinen, R.1
  • 19
    • 0037046215 scopus 로고    scopus 로고
    • Porphyria presenting with bilateral radial motor neuropathy: Evidence of a novel gene mutation
    • King PH, Petersen NE, Rakhra R, Schreiber WE (2002) Porphyria presenting with bilateral radial motor neuropathy: Evidence of a novel gene mutation. Neurology 58: 1118-1121.
    • (2002) Neurology , vol.58 , pp. 1118-1121
    • King, P.H.1    Petersen, N.E.2    Rakhra, R.3    Schreiber, W.E.4
  • 21
    • 0028156828 scopus 로고
    • Human beta-mannosidase deficiency associated with peripheral neuropathy
    • Levade T, Graber D, Flurin V, et al (1994) Human beta-mannosidase deficiency associated with peripheral neuropathy. Ann Neurol 35: 116-119.
    • (1994) Ann Neurol , vol.35 , pp. 116-119
    • Levade, T.1    Graber, D.2    Flurin, V.3
  • 22
    • 1642385258 scopus 로고    scopus 로고
    • Variants and mimics of Guillain Barre syndrome
    • Levin KH (2004) Variants and mimics of Guillain Barre syndrome. Neurologist 10: 61-74.
    • (2004) Neurologist , vol.10 , pp. 61-74
    • Levin, K.H.1
  • 23
    • 0032054375 scopus 로고    scopus 로고
    • Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia
    • Martinello F, Fardin P, Ottina M, et al (1998) Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci 156: 177-179.
    • (1998) J Neurol Sci , vol.156 , pp. 177-179
    • Martinello, F.1    Fardin, P.2    Ottina, M.3
  • 26
    • 0025099643 scopus 로고
    • Neurologic crises in hereditary tyrosinemia
    • Mitchell G, Larochelle J, Lambert M, et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322: 432-437.
    • (1990) N Engl J Med , vol.322 , pp. 432-437
    • Mitchell, G.1    Larochelle, J.2    Lambert, M.3
  • 27
    • 0031007012 scopus 로고    scopus 로고
    • Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene
    • Navon R, Khosravi R, Melki J, et al (1997) Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene. Ann Neurol 41: 631-638.
    • (1997) Ann Neurol , vol.41 , pp. 631-638
    • Navon, R.1    Khosravi, R.2    Melki, J.3
  • 29
    • 33747192567 scopus 로고    scopus 로고
    • Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
    • Oskoui M, Davidzon G, Pascual J, et al (2006) Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 63: 1122-1126.
    • (2006) Arch Neurol , vol.63 , pp. 1122-1126
    • Oskoui, M.1    Davidzon, G.2    Pascual, J.3
  • 30
    • 0028236161 scopus 로고
    • Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult
    • Pasquier F, Lebert F, Petit H, Zittoun J, Marquet J (1994) Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult. J Neurol Neurosurg Psychiatry 57: 765-766.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 765-766
    • Pasquier, F.1    Lebert, F.2    Petit, H.3    Zittoun, J.4    Marquet, J.5
  • 31
    • 0037056368 scopus 로고    scopus 로고
    • Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia
    • Peltola KE, Jaaskelainen S, Heinonen OJ, et al (2002) Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology 59: 735-740.
    • (2002) Neurology , vol.59 , pp. 735-740
    • Peltola, K.E.1    Jaaskelainen, S.2    Heinonen, O.J.3
  • 33
    • 0028834997 scopus 로고
    • Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)
    • Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, Waespe W (1995) Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). J Neurol Neurosurg Psychiatry 59: 520-523.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 520-523
    • Schnorf, H.1    Gitzelmann, R.2    Bosshard, N.U.3    Spycher, M.4    Waespe, W.5
  • 34
    • 34248551270 scopus 로고    scopus 로고
    • Inborn errors of metabolism in adult neurology - A clinical approach focused on treatable diseases
    • Sedel F, Lyon-Caen O, Saudubray JM (2007). Inborn errors of metabolism in adult neurology - a clinical approach focused on treatable diseases. Nat Clin Pract Neurol 3: 279-290.
    • (2007) Nat Clin Pract Neurol , vol.3 , pp. 279-290
    • Sedel, F.1    Lyon-Caen, O.2    Saudubray, J.M.3
  • 35
    • 0842330674 scopus 로고    scopus 로고
    • Tangier disease - A diagnostic challenge in countries endemic for leprosy
    • Sinha S, Mahadevan A, Lokesh L (2004) Tangier disease - a diagnostic challenge in countries endemic for leprosy. J Neurol Neurosurg Psychiatry 75: 301-304.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 301-304
    • Sinha, S.1    Mahadevan, A.2    Lokesh, L.3
  • 36
    • 0347361626 scopus 로고    scopus 로고
    • Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein
    • Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I (2004) Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29: 66-72.
    • (2004) Muscle Nerve , vol.29 , pp. 66-72
    • Spiekerkoetter, U.1    Bennett, M.J.2    Ben-Zeev, B.3    Strauss, A.W.4    Tein, I.5
  • 38
    • 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 JJ, Dermaut B, et al (2003) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13: 133-142.
    • (2003) Neuromuscul Disord , vol.13 , pp. 133-142
    • Van Goethem, G.1    Martin, J.J.2    Dermaut, B.3
  • 39
    • 0034255697 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: Observations in ten patients
    • Verrips A, van Engelen BG, ter Laak H, et al (2000) Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: Observations in ten patients. Neuromuscul Disord 10: 407-414.
    • (2000) Neuromuscul Disord , vol.10 , pp. 407-414
    • Verrips, A.1    van Engelen, B.G.2    ter Laak, H.3
  • 40
    • 4744371532 scopus 로고    scopus 로고
    • Peroxisomes, lipid metabolism, and peroxisomal disorders
    • Wanders RJ (2004) Peroxisomes, lipid metabolism, and peroxisomal disorders. Mol Genet Metab 83: 16-27.
    • (2004) Mol Genet Metab , vol.83 , pp. 16-27
    • Wanders, R.J.1
  • 41
    • 33748984649 scopus 로고    scopus 로고
    • Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
    • Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM (2006) Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 149: 554-559.
    • (2006) J Pediatr , vol.149 , pp. 554-559
    • Wasserstein, M.P.1    Aron, A.2    Brodie, S.E.3    Simonaro, C.4    Desnick, R.J.5    McGovern, M.M.6
  • 44
    • 33645276591 scopus 로고    scopus 로고
    • Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies
    • Züchner S, Vance JM (2006) Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2: 45-53.
    • (2006) Nat Clin Pract Neurol , vol.2 , pp. 45-53
    • Züchner, S.1    Vance, J.M.2
  • 45
    • 0242380866 scopus 로고    scopus 로고
    • A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    • Zuchner S, Sperfeld AD, Senderek J, et al (2003) A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. Brain 126: 920-927.
    • (2003) Brain , vol.126 , pp. 920-927
    • Zuchner, S.1    Sperfeld, A.D.2    Senderek, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.