메뉴 건너뛰기




Volumn 10, Issue 7, 2000, Pages 497-502

Hereditary spastic paraplegia associated with peripheral neuropathy: A distinct clinical and genetic entity

Author keywords

Exclusion mapping; Hereditary motor and sensory neuropathy type V; Hereditary spastic paraplegia

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FAMILY; FEMALE; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MALE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL;

EID: 0034308256     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00128-0     Document Type: Article
Times cited : (10)

References (41)
  • 1
    • 0001432872 scopus 로고
    • Contribution to spinal marrow pathology
    • Strümpell A. Contribution to spinal marrow pathology (in German). Arch Psychiatr Nervenkr 1880;10:676-717.
    • (1880) Arch Psychiatr Nervenkr , vol.10 , pp. 676-717
    • Strümpell, A.1
  • 2
    • 0015945194 scopus 로고
    • Strumpell's familial spastic paraplegia: Genetics and neuropathology
    • Behan WM, Maia M. Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 1974;37(1):8-20.
    • (1974) J Neurol Neurosurg Psychiatry , vol.37 , Issue.1 , pp. 8-20
    • Behan, W.M.1    Maia, M.2
  • 3
    • 0019777963 scopus 로고
    • Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
    • Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-883.
    • (1981) J Neurol Neurosurg Psychiatry , vol.44 , pp. 871-883
    • Harding, A.E.1
  • 4
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;11:151-1155.
    • (1983) Lancet , vol.11 , pp. 151-1155
    • Harding, A.E.1
  • 5
    • 0025353508 scopus 로고
    • A quantitative study of sensory function in hereditary spastic paraplegia
    • Schady W, Sheard A. A quantitative study of sensory function in hereditary spastic paraplegia. Brain 1990;113:709-720.
    • (1990) Brain , vol.113 , pp. 709-720
    • Schady, W.1    Sheard, A.2
  • 6
    • 0002882906 scopus 로고
    • Familial spastic paraplegia
    • Vinken PJ, Bruyn JW, editors. Amsterdam: North Holland
    • Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn JW, editors. Handbook of clinical neurology, Vol. 22, Amsterdam: North Holland, 1975. pp. 421-431.
    • (1975) Handbook of Clinical Neurology , vol.22 , pp. 421-431
    • Sutherland, J.M.1
  • 7
    • 0017585942 scopus 로고
    • Strumpell's pure familial spastic paraplegia: Case study and review of the literature
    • Holmes GL, Shaywitz BA. Strumpell's pure familial spastic paraplegia: case study and review of the literature. J Neurol Neurosurg Psychiatry 1977;40:1003-1008.
    • (1977) J Neurol Neurosurg Psychiatry , vol.40 , pp. 1003-1008
    • Holmes, G.L.1    Shaywitz, B.A.2
  • 9
    • 0023634009 scopus 로고
    • Etiological heterogeneity in X-linked spastic paraplegia
    • Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987;41:933-943.
    • (1987) Am J Hum Genet , vol.41 , pp. 933-943
    • Keppen, L.D.1    Leppert, M.F.2    O'Connell, P.3
  • 10
    • 0029822994 scopus 로고    scopus 로고
    • Extensive genetic heterogeneity in the 'pure' form of autosomal dominant ESP
    • Kobayashi H, Garcia CA, Tay PN, Huffman EP. Extensive genetic heterogeneity in the 'pure' form of autosomal dominant ESP. Muscle Nerve 1996;19(11):1435-1438.
    • (1996) Muscle Nerve , vol.19 , Issue.11 , pp. 1435-1438
    • Kobayashi, H.1    Garcia, C.A.2    Tay, P.N.3    Huffman, E.P.4
  • 11
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically hetero-geneous and one locus maps to chromosome 14q
    • Hazan J, Lamy C, Melki J, Munnich A, De Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically hetero-geneous and one locus maps to chromosome 14q. Nat Genet 1993;5:163-167.
    • (1993) Nat Genet , vol.5 , pp. 163-167
    • Hazan, J.1    Lamy, C.2    Melki, J.3    Munnich, A.4    De Recondo, J.5    Weissenbach, J.6
  • 12
    • 0028872909 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity
    • Gispert S, Santos N, Damen R, et al. Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 1995;56:183-187.
    • (1995) Am J Hum Genet , vol.56 , pp. 183-187
    • Gispert, S.1    Santos, N.2    Damen, R.3
  • 13
    • 0027981739 scopus 로고
    • Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
    • Hazan J, Fontaine B, Bruyn R, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994;3:1569-1573.
    • (1994) Hum Mol Genet , vol.3 , pp. 1569-1573
    • Hazan, J.1    Fontaine, B.2    Bruyn, R.3
  • 14
    • 0028868126 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
    • Fink JK, Wu CB, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-192.
    • (1995) Am J Hum Genet , vol.56 , pp. 188-192
    • Fink, J.K.1    Wu, C.B.2    Jones, S.M.3
  • 15
    • 0033073735 scopus 로고    scopus 로고
    • Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
    • Hedera P, Rainer S, Alvarado D, et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet 1999;64:563-569.
    • (1999) Am J Hum Genet , vol.64 , pp. 563-569
    • Hedera, P.1    Rainer, S.2    Alvarado, D.3
  • 16
    • 0033362081 scopus 로고    scopus 로고
    • A new locus for autosomal dominant "Pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
    • Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant "Pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet 1999;65(3):757-763.
    • (1999) Am J Hum Genet , vol.65 , Issue.3 , pp. 757-763
    • Reid, E.1    Dearlove, A.M.2    Rhodes, M.3    Rubinsztein, D.C.4
  • 17
    • 0033912569 scopus 로고    scopus 로고
    • A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13
    • Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000;66(2):728-732.
    • (2000) Am J Hum Genet , vol.66 , Issue.2 , pp. 728-732
    • Reid, E.1    Dearlove, A.M.2    Osborn, O.3    Rogers, M.T.4    Rubinsztein, D.C.5
  • 18
    • 0033912567 scopus 로고    scopus 로고
    • A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    • Fontaine B, Davoine CS, Durr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000;66(2):702-707.
    • (2000) Am J Hum Genet , vol.66 , Issue.2 , pp. 702-707
    • Fontaine, B.1    Davoine, C.S.2    Durr, A.3
  • 19
    • 0033069503 scopus 로고    scopus 로고
    • Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
    • Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999;64:586-593.
    • (1999) Am J Hum Genet , vol.64 , pp. 586-593
    • Seri, M.1    Cusano, R.2    Forabosco, P.3
  • 20
    • 0028145138 scopus 로고
    • Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
    • Hentati A, Pericak-Vance MA, Hung W-Y, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-1267.
    • (1994) Hum Mol Genet , vol.3 , pp. 1263-1267
    • Hentati, A.1    Pericak-Vance, M.A.2    Hung, W.-Y.3
  • 21
    • 0032231934 scopus 로고    scopus 로고
    • A new locus for autosomal recessive Hereditary spastic paraplegia maps to chromosome 16q24.3
    • De Michele G, De Fusco M, Cavalcanti F, et al. A new locus for autosomal recessive Hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998;63:135-139.
    • (1998) Am J Hum Genet , vol.63 , pp. 135-139
    • De Michele, G.1    De Fusco, M.2    Cavalcanti, F.3
  • 22
    • 0345279856 scopus 로고    scopus 로고
    • Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
    • Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999;53(1):50-56.
    • (1999) Neurology , vol.53 , Issue.1 , pp. 50-56
    • Martinez Murillo, F.1    Kobayashi, H.2    Pegoraro, E.3
  • 23
    • 0014301112 scopus 로고
    • Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
    • Dyck PJ, Lambert EHI. Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
    • (1968) Arch Neurol , vol.18 , pp. 619-625
    • Dyck, P.J.1    Lambert, E.H.I.2
  • 25
    • 0017648231 scopus 로고
    • Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography
    • Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977;100:41-66.
    • (1977) Brain , vol.100 , pp. 41-66
    • Buchthal, F.1    Behse, F.2
  • 26
    • 0017737177 scopus 로고
    • Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves
    • Behse F, Buchthal F. Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain 1977;100:67-85.
    • (1977) Brain , vol.100 , pp. 67-85
    • Behse, F.1    Buchthal, F.2
  • 27
    • 0026564532 scopus 로고
    • Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature
    • Gemignani F, Guidetti D, Bizzi P, Preda P, Cenacchi G, Marbini A. Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol 1992;83(2):196-201.
    • (1992) Acta Neuropathol , vol.83 , Issue.2 , pp. 196-201
    • Gemignani, F.1    Guidetti, D.2    Bizzi, P.3    Preda, P.4    Cenacchi, G.5    Marbini, A.6
  • 28
    • 0015990238 scopus 로고
    • Motor nerve conduction velocity in peroneal muscular atrophy: Evidence for genetic heterogeneity
    • Thomas PK, Calne DB. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry 1974;37(1):68-75.
    • (1974) J Neurol Neurosurg Psychiatry , vol.37 , Issue.1 , pp. 68-75
    • Thomas, P.K.1    Calne, D.B.2
  • 29
    • 0001768884 scopus 로고
    • Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons
    • Dick PJ, Thomas PK, Lambert EH, editors. Philadelphia, PA: Saunders
    • Dick PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dick PJ, Thomas PK, Lambert EH, editors. Peripheral neuropathy, Philadelphia, PA: Saunders, 1975. pp. 825-867.
    • (1975) Peripheral Neuropathy , pp. 825-867
    • Dick, P.J.1
  • 30
    • 0027317609 scopus 로고
    • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
    • Ben Othmane K, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 1993;17:370-375.
    • (1993) Genomics , vol.17 , pp. 370-375
    • Ben Othmane, K.1    Middleton, L.T.2    Loprest, L.J.3
  • 33
    • 0010669659 scopus 로고    scopus 로고
    • A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome Iq21.2-q21.3
    • Bouhouche A, Benomar A, Birouk N, et al. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome Iq21.2-q21.3. Am J Hum Genet 1999;65(3):722-727.
    • (1999) Am J Hum Genet , vol.65 , Issue.3 , pp. 722-727
    • Bouhouche, A.1    Benomar, A.2    Birouk, N.3
  • 34
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Poleski HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:55.
    • (1988) Nucleic Acids Res , vol.16 , pp. 55
    • Miller, S.A.1    Dykes, D.D.2    Poleski, H.F.3
  • 35
    • 0027512686 scopus 로고
    • Genetic and population study of a X-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique
    • Santos FR, Pena SDJ, Epplen JT. Genetic and population study of a X-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum Genet 1993;90:655-656.
    • (1993) Hum Genet , vol.90 , pp. 655-656
    • Santos, F.R.1    Pena, S.D.J.2    Epplen, J.T.3
  • 36
    • 0000801438 scopus 로고
    • SLINK: A general simulation program for linkage analysis
    • Weeks DE, Ott J, Lathrop GM. SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 1990;47:A204.
    • (1990) Am J Hum Genet Suppl , vol.47
    • Weeks, D.E.1    Ott, J.2    Lathrop, G.M.3
  • 38
    • 0027985389 scopus 로고
    • Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): A clinical, neurophysiological and pathological study of a large kindred
    • Frith JA, McLeod JG, Nicholson GA, Yang F. Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological and pathological study of a large kindred. J Neurol Neurosurg Psychiatry 1994;57:1343-1346.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 1343-1346
    • Frith, J.A.1    McLeod, J.G.2    Nicholson, G.A.3    Yang, F.4
  • 39
    • 0018351601 scopus 로고
    • Peripheral nerve involvement in familial spastic paraplegia
    • Tredici G, Minoli G. Peripheral nerve involvement in familial spastic paraplegia. Arch Neurol 1979;36:236-239.
    • (1979) Arch Neurol , vol.36 , pp. 236-239
    • Tredici, G.1    Minoli, G.2
  • 40
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 41
    • 0033015744 scopus 로고    scopus 로고
    • Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
    • Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999;52(9):1827-1832.
    • (1999) Neurology , vol.52 , Issue.9 , pp. 1827-1832
    • Timmerman, V.1    De Jonghe, P.2    Ceuterick, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.