메뉴 건너뛰기




Volumn 19, Issue 3, 1999, Pages 301-310

Hereditary spastic paraplegia: Genetic heterogeneity and genotype- phenotype correlation

Author keywords

Hereditary spastic paraplegia; Strumpell Lorrain syndrome

Indexed keywords

METALLOPROTEINASE; NERVE CELL ADHESION MOLECULE;

EID: 0032708407     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040846     Document Type: Article
Times cited : (56)

References (78)
  • 1
    • 0015945194 scopus 로고
    • Strumpell's familial spastic paraplegia: Genetics and neuropathology
    • Behan W, Maia M. Strumpell's familial spastic paraplegia: Genetics and neuropathology. J Neurol Neurosurg Psychiatry 1974; 37:8-20
    • (1974) J Neurol Neurosurg Psychiatry , vol.37 , pp. 8-20
    • Behan, W.1    Maia, M.2
  • 2
    • 0017585942 scopus 로고
    • Strumpell's pure familial spastic paraplegia: Case study and review of the literature
    • Holmes G, Shaywitz B. 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.1    Shaywitz, B.2
  • 3
    • 0015733925 scopus 로고
    • Sphincter involvement in hereditary spastic paraplegia
    • Cartlidge N, Bone G. Sphincter involvement in hereditary spastic paraplegia. Neurology 1973;23:1160-1163
    • (1973) Neurology , vol.23 , pp. 1160-1163
    • Cartlidge, N.1    Bone, G.2
  • 4
    • 0039505972 scopus 로고
    • Hereditary (familial) spastic paraplegia: Report of six cases in one family
    • Philipp E. Hereditary (familial) spastic paraplegia: Report of six cases in one family. New Zeal Med J 1949;48:22-25
    • (1949) New Zeal Med J , vol.48 , pp. 22-25
    • Philipp, E.1
  • 5
    • 0009544964 scopus 로고
    • Hereditary spastic paraplegia
    • Roe P. Hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1963;26:516-519
    • (1963) J Neurol Neurosurg Psychiatry , vol.26 , pp. 516-519
    • Roe, P.1
  • 6
    • 0010476966 scopus 로고
    • Family spastic paralysis
    • Rhein J. Family spastic paralysis. J Nerv Ment Dis 1914;44: 115-144
    • (1914) J Nerv Ment Dis , vol.44 , pp. 115-144
    • Rhein, J.1
  • 7
    • 0027759812 scopus 로고
    • Hereditary spastic paraplegias
    • Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993; 13:333-336
    • (1993) Semin Neurol , vol.13 , pp. 333-336
    • Harding, A.E.1
  • 8
    • 0025124220 scopus 로고
    • A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease)
    • Scheltens P, Bruyn RPM, Hazenberg GJ. A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease). Acta Neurol Scand 1990;82:169-173
    • (1990) Acta Neurol Scand , vol.82 , pp. 169-173
    • Scheltens, P.1    Bruyn, R.P.M.2    Hazenberg, G.J.3
  • 10
    • 0040691221 scopus 로고
    • Spastic paraplegia/HSP
    • Motulsky AG, Bobrow M, Harper PS, Scriver C, eds. New York: Oxford University Press
    • Baraitser M. Spastic paraplegia/HSP. In: Motulsky AG, Bobrow M, Harper PS, Scriver C, eds. The genetics of neurological disorders, 2nd ed. New York: Oxford University Press, 1990:275-290
    • (1990) The Genetics of Neurological Disorders, 2nd Ed. , pp. 275-290
    • Baraitser, M.1
  • 12
    • 0001519052 scopus 로고
    • Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations
    • Schwarz GA, Liu C-N. Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. AMA Arch Neurol Psychiatry 1956;75:144-162
    • (1956) AMA Arch Neurol Psychiatry , vol.75 , pp. 144-162
    • Schwarz, G.A.1    Liu, C.-N.2
  • 14
    • 0023634009 scopus 로고
    • Etiological heterogeneity in X-linked spastic paraplegia
    • Keppen LD, Leppert MF, O'Connell P. 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
  • 15
    • 0040097749 scopus 로고
    • Spastic paraplegia, hereditary
    • McKusick VA, ed. Baltimore: Johns Hopkins University Press
    • McKusick VA, Spastic paraplegia, hereditary. In: McKusick VA, ed. Mendelian Inheritance in Man, 8th ed. Baltimore: Johns Hopkins University Press, 1988:1189-1189
    • (1988) Mendelian Inheritance in Man, 8th Ed. , pp. 1189-1189
    • McKusick, V.A.1
  • 16
    • 0016173785 scopus 로고
    • Hereditary spastic paraplegia in Western Norway
    • Skre H. Hereditary spastic paraplegia in Western Norway. Clin Gen 1993;6:165-183
    • (1993) Clin Gen , vol.6 , pp. 165-183
    • Skre, H.1
  • 17
    • 8944250670 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Advances in genetic research
    • Fink JK, Heiman-Patterson T, et al. Hereditary spastic paraplegia: Advances in genetic research. Neurology 1996;46:1507-1514
    • (1996) Neurology , vol.46 , pp. 1507-1514
    • Fink, J.K.1    Heiman-Patterson, T.2
  • 18
    • 0030843168 scopus 로고    scopus 로고
    • Advances in hereditary spastic paraplegia
    • Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol 1997;10:313-318
    • (1997) Curr Opin Neurol , vol.10 , pp. 313-318
    • Fink, J.K.1
  • 19
    • 0005330003 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia
    • Adelman G, Smith BH, eds. (CD-ROM). Amsterdam: Elsevier Science
    • Fink JK. Hereditary spastic paraplegia. In: Adelman G, Smith BH, eds. The Encyclopedia of Neuroscience, 2nd ed. (CD-ROM). Amsterdam: Elsevier Science, 1997:871-874
    • (1997) The Encyclopedia of Neuroscience, 2nd Ed. , pp. 871-874
    • Fink, J.K.1
  • 20
    • 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
  • 23
    • 0028067709 scopus 로고
    • Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers
    • Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, et al. Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994;3:1867-1871
    • (1994) Hum Mol Genet , vol.3 , pp. 1867-1871
    • Hentati, A.1    Pericak-Vance, M.A.2    Lennon, F.3    Wasserman, B.4    Hentati, F.5    Juneja, T.6
  • 24
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically heterogeneous 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 heterogeneous 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
  • 25
    • 0018837030 scopus 로고
    • Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia
    • Opjordsmoen S, Nyberg-Hansen R. Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980;61:35-41
    • (1980) Acta Neurol Scand , vol.61 , pp. 35-41
    • Opjordsmoen, S.1    Nyberg-Hansen, R.2
  • 26
    • 0000666624 scopus 로고
    • Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
    • Abstract
    • Hentati A, Pericack-Vance MA, Hung W-Y, Belal S, Laing N, Boustani RM, et al. Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Genet 1993;53 (Abstract):1013
    • (1993) Hum Genet , vol.53 , pp. 1013
    • Hentati, A.1    Pericack-Vance, M.A.2    Hung, W.-Y.3    Belal, S.4    Laing, N.5    Boustani, R.M.6
  • 27
    • 0032231934 scopus 로고    scopus 로고
    • A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
    • DeMichele G, DeFusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, 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
    • DeMichele, G.1    DeFusco, M.2    Cavalcanti, F.3    Filla, A.4    Marconi, R.5    Volpe, G.6
  • 28
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    Fusco, M.2    Ciarmatori, S.3    Zeviani, M.4    Mora, M.5    Fernandez, P.6
  • 29
    • 0028954678 scopus 로고
    • Pelizaeus-Merzbacher disease in a family of portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
    • Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. Am J Med Genet 1995;55:402-404
    • (1995) Am J Med Genet , vol.55 , pp. 402-404
    • Pratt, V.M.1    Boyadjiev, S.2    Dlouhy, S.R.3    Silver, K.4    Der Kaloustian, V.M.5    Hodes, M.E.6
  • 32
    • 0029001756 scopus 로고
    • X-linked pure familial spastic paraparesis: Characterization of a large kindred with magnetic resonance imaging studies
    • Cambi F, Tartaglino L, Lublin FD, McCarren D. X-linked pure familial spastic paraparesis: Characterization of a large kindred with magnetic resonance imaging studies. Arch Neurol 1995; 52:665-669
    • (1995) Arch Neurol , vol.52 , pp. 665-669
    • Cambi, F.1    Tartaglino, L.2    Lublin, F.D.3    McCarren, D.4
  • 33
    • 0005350633 scopus 로고    scopus 로고
    • A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus
    • Abstract
    • Dube M-P, Boutros M, Figlewicz DA, Rouleau GA. A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus. Am J Hum Genet 1997;61 (Abstract):A169
    • (1997) Am J Hum Genet , vol.61
    • Dube, M.-P.1    Boutros, M.2    Figlewicz, D.A.3    Rouleau, G.A.4
  • 34
  • 35
    • 0017126169 scopus 로고
    • X-linked recessive type of pure spastic paraplegia in a large pedigree: Absence of detectable linkage with Xg
    • Zastz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: Absence of detectable linkage with Xg. J Med Genet 1976;13:217-222
    • (1976) J Med Genet , vol.13 , pp. 217-222
    • Zastz, M.1    Penha-Serrano, C.2    Otto, P.A.3
  • 36
    • 0029863607 scopus 로고    scopus 로고
    • Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
    • Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 1996;46:1112-1117
    • (1996) Neurology , vol.46 , pp. 1112-1117
    • Cambi, F.1    Tang, X.M.2    Cordray, P.3    Fain, P.R.4    Keppen, L.D.5    Barker, D.F.6
  • 38
    • 0028241952 scopus 로고
    • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
    • Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Patterson J, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994;7:402-407
    • (1994) Nat Genet , vol.7 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3    MacFarlane, J.4    Stevenson, R.5    Patterson, J.6
  • 39
    • 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, Voit T, Schulz J, Klockgether T, 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    Voit, T.4    Schulz, J.5    Klockgether, T.6
  • 42
    • 0006302434 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Linkage analysis and evidence for linkage to chromosome 2p
    • Figlewicz A, Dube MP, Farlow MR, Ebers G, Harper P, Kolodny E, et al. Autosomal dominant familial spastic paraplegia: Linkage analysis and evidence for linkage to chromosome 2p. Am J Hum Genet 1994;55 (Suppl.):A185
    • (1994) Am J Hum Genet , vol.55 , Issue.SUPPL.
    • Figlewicz, A.1    Dube, M.P.2    Farlow, M.R.3    Ebers, G.4    Harper, P.5    Kolodny, E.6
  • 44
    • 17444432925 scopus 로고    scopus 로고
    • Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
    • Paternotte C, Rudnicki D, Fizames C, Davoine C-S, Mavel D, Durr A, et al. Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 1998;8:1216-1227
    • (1998) Genome Res , vol.8 , pp. 1216-1227
    • Paternotte, C.1    Rudnicki, D.2    Fizames, C.3    Davoine, C.-S.4    Mavel, D.5    Durr, A.6
  • 46
    • 0028817191 scopus 로고
    • Autosomal dominant hereditary spastic paraparesis, type I: Clinical and genetic analysis of a large North American family
    • Fink JK, Sharp G, Lange B, Wu C-TB, Haley T, Otterud B, et al. Autosomal dominant hereditary spastic paraparesis, type I: Clinical and genetic analysis of a large North American family. Neurology 1995;45:325-331
    • (1995) Neurology , vol.45 , pp. 325-331
    • Fink, J.K.1    Sharp, G.2    Lange, B.3    Wu, C.-T.B.4    Haley, T.5    Otterud, B.6
  • 47
    • 0030010240 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes
    • Fink JK, Jones SM, Sharp GB, Lange BM, Otterud B, Leppert M. Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. Neurology 1996;46:835-836
    • (1996) Neurology , vol.46 , pp. 835-836
    • Fink, J.K.1    Jones, S.M.2    Sharp, G.B.3    Lange, B.M.4    Otterud, B.5    Leppert, M.6
  • 48
    • 0031743356 scopus 로고    scopus 로고
    • Microtubule associated protein 1A (MAP1a) gene: Genetic mapping and evaluation as a candidate gene for hereditary spastic paraplegia
    • Rainier S, Jones SM, Esposito C, Otterud B, Leppert M, Fink JK. Microtubule associated protein 1A (MAP1a) gene: Genetic mapping and evaluation as a candidate gene for hereditary spastic paraplegia. Neurology 1998;51:1509-1510
    • (1998) Neurology , vol.51 , pp. 1509-1510
    • Rainier, S.1    Jones, S.M.2    Esposito, C.3    Otterud, B.4    Leppert, M.5    Fink, J.K.6
  • 49
    • 0345683327 scopus 로고    scopus 로고
    • Evidence for gene localisation to chr. 15 in two Irish families with hereditary spastic paraplegia
    • Fitzgerald B, Byrne P, Hutchinson M, Parfrey NA. Evidence for gene localisation to chr. 15 in two Irish families with hereditary spastic paraplegia. Lab Invest 1999;79:1002
    • (1999) Lab Invest , vol.79 , pp. 1002
    • Fitzgerald, B.1    Byrne, P.2    Hutchinson, M.3    Parfrey, N.A.4
  • 51
    • 0033551507 scopus 로고    scopus 로고
    • New locus for hereditary spastic paraplegia (HSP): Phenotypic analysis of autosomal dominant HSP linked to chromosome 8q
    • Hedera P, DiMauro S, Bonilla E, Wald J, Eldevik OP, Fink JK. New locus for hereditary spastic paraplegia (HSP): Phenotypic analysis of autosomal dominant HSP linked to chromosome 8q. Neurology 1999;53:44-50
    • (1999) Neurology , vol.53 , pp. 44-50
    • Hedera, P.1    DiMauro, S.2    Bonilla, E.3    Wald, J.4    Eldevik, O.P.5    Fink, J.K.6
  • 52
    • 0029966693 scopus 로고    scopus 로고
    • Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: A new syndrome?
    • Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: A new syndrome? Am J Med Genet 1996;62:42-47
    • (1996) Am J Med Genet , vol.62 , pp. 42-47
    • Slavotinek, A.M.1    Pike, M.2    Mills, K.3    Hurst, J.A.4
  • 53
    • 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, Cinti R, Caroli F, Picco 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    Cinti, R.4    Caroli, F.5    Picco, P.6
  • 54
    • 0029968460 scopus 로고    scopus 로고
    • Trinucleotide repeats in neurogenetic disorders
    • Paulson HL, Fischbeck KH. Trinucleotide repeats in neurogenetic disorders. Ann Rev Neurosci 1996;19:79-107
    • (1996) Ann Rev Neurosci , vol.19 , pp. 79-107
    • Paulson, H.L.1    Fischbeck, K.H.2
  • 55
    • 0030807772 scopus 로고    scopus 로고
    • CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
    • Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 1997;6:1811-1816
    • (1997) Hum Mol Genet , vol.6 , pp. 1811-1816
    • Nielsen, J.E.1    Koefoed, P.2    Abell, K.3    Hasholt, L.4    Eiberg, H.5    Fenger, K.6
  • 56
    • 0031025555 scopus 로고    scopus 로고
    • Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
    • Raskind WH, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD. Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Hum Genet 1997;74:26-36
    • (1997) Am J Hum Genet , vol.74 , pp. 26-36
    • Raskind, W.H.1    Pericak-Vance, M.A.2    Lennon, F.3    Wolff, J.4    Lipe, H.P.5    Bird, T.D.6
  • 57
    • 0029737834 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia with anticipation maps to a 4-cm interval on chromosome 2p21-p24 in a large German family
    • Burger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Autosomal dominant spastic paraplegia with anticipation maps to a 4-cm interval on chromosome 2p21-p24 in a large German family. Hum Genet 1996;98:371-375
    • (1996) Hum Genet , vol.98 , pp. 371-375
    • Burger, J.1    Metzke, H.2    Paternotte, C.3    Schilling, F.4    Hazan, J.5    Reis, A.6
  • 58
    • 0031683446 scopus 로고    scopus 로고
    • CAG repeat expansion in autosomal dominant familial spastic paraparesis: Novel expansion in a subset of patients
    • Benson KF, Horwitz M, Wolf J, Friend K, Thompson E, White S, et al. CAG repeat expansion in autosomal dominant familial spastic paraparesis: Novel expansion in a subset of patients. Hum Mol Genet 1998;7:1779-1786
    • (1998) Hum Mol Genet , vol.7 , pp. 1779-1786
    • Benson, K.F.1    Horwitz, M.2    Wolf, J.3    Friend, K.4    Thompson, E.5    White, S.6
  • 59
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;5:135-139
    • (1993) Nat Genet , vol.5 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Housman, D.E.4
  • 60
    • 0342820856 scopus 로고    scopus 로고
    • Isolation and characterization of triplet repeats from the spastic paraplegia (SPG4) locus on chromosome 2
    • Del-Favero J, Goossens D, Van den Bossche D, De Jonghe P, Van Broeckhoven C. Isolation and characterization of triplet repeats from the spastic paraplegia (SPG4) locus on chromosome 2. Am J Hum Genet 1998;63(Suppl.):A324
    • (1998) Am J Hum Genet , vol.63 , Issue.SUPPL.
    • Del-Favero, J.1    Goossens, D.2    Van Den Bossche, D.3    De Jonghe, P.4    Van Broeckhoven, C.5
  • 62
    • 0022623952 scopus 로고
    • The structural gene coding for myelin-associated proteolipidprotein is mutated in jimpy mice
    • Dautigny A, Mattei M-G, Morello D, Alliel PM, Pham-Dinh D, Amar L, et al. The structural gene coding for myelin-associated proteolipidprotein is mutated in jimpy mice. Nature 1986;321:867-869
    • (1986) Nature , vol.321 , pp. 867-869
    • Dautigny, A.1    Mattei, M.-G.2    Morello, D.3    Alliel, P.M.4    Pham-Dinh, D.5    Amar, L.6
  • 63
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • Saugier-Veber P, Munnich A, Bonneau D, Rozet J-M, LeMerrer M, Gil R, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 1994;6:257-262
    • (1994) Nature Genet , vol.6 , pp. 257-262
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3    Rozet, J.-M.4    LeMerrer, M.5    Gil, R.6
  • 64
    • 0025310594 scopus 로고
    • Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): Identification of distinct genes and their differential expression in developing brain
    • Garner CC, Garner A, Huber G, Kozak C, Matus A. Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): Identification of distinct genes and their differential expression in developing brain. J Neurochem 1990;55:146-154
    • (1990) J Neurochem , vol.55 , pp. 146-154
    • Garner, C.C.1    Garner, A.2    Huber, G.3    Kozak, C.4    Matus, A.5
  • 65
    • 0029889132 scopus 로고    scopus 로고
    • The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
    • Fransen E, Vits L, VanCamp G, Willems PJ. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. Am J Med Genet 1996;64:73-77
    • (1996) Am J Med Genet , vol.64 , pp. 73-77
    • Fransen, E.1    Vits, L.2    VanCamp, G.3    Willems, P.J.4
  • 66
    • 0029957549 scopus 로고    scopus 로고
    • Outline structure of the human l1 cell adhesion molecule and the sites where mutations cause neurological disorders
    • Bateman A, Jouet M., MacFarlane J, Du JS, Kenwrick S, Chothia C. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 1996;15:6050-6059
    • (1996) EMBO J , vol.15 , pp. 6050-6059
    • Bateman, A.1    Jouet, M.2    MacFarlane, J.3    Du, J.S.4    Kenwrick, S.5    Chothia, C.6
  • 67
    • 0025911628 scopus 로고
    • X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: A variable expression of the same mutation at Xq28
    • Fryns JP, Spaepen A, Cassiman J-J, van den Boorn N. X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: A variable expression of the same mutation at Xq28. J Med Genet 1991;28:429-131
    • (1991) J Med Genet , vol.28 , pp. 429-1131
    • Fryns, J.P.1    Spaepen, A.2    Cassiman, J.-J.3    Van Den Boorn, N.4
  • 68
    • 0028241952 scopus 로고
    • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
    • Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Patterson J, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994;7:402-407
    • (1994) Nat Genet , vol.7 , pp. 402-407
    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3    MacFarlane, J.4    Stevenson, R.5    Patterson, J.6
  • 70
    • 0031976287 scopus 로고    scopus 로고
    • Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
    • Webb S, Coleman D, Byrne P, Parfrey N, Burke T, Hutchinson J, et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998;121:601-609
    • (1998) Brain , vol.121 , pp. 601-609
    • Webb, S.1    Coleman, D.2    Byrne, P.3    Parfrey, N.4    Burke, T.5    Hutchinson, J.6
  • 71
    • 0002397825 scopus 로고
    • A sex-linked recessive form of spastic paraplegia
    • Johnston AW, McKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 1962;14:83-96
    • (1962) Am J Hum Genet , vol.14 , pp. 83-96
    • Johnston, A.W.1    McKusick, V.A.2
  • 72
    • 0027212813 scopus 로고
    • X-linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus
    • Bonneau D, Rozet J-M, Bulteau C, Berthier M, Mettey R, Gill R, et al. X-linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus. J Med Genet 1993;30:381-384
    • (1993) J Med Genet , vol.30 , pp. 381-384
    • Bonneau, D.1    Rozet, J.-M.2    Bulteau, C.3    Berthier, M.4    Mettey, R.5    Gill, R.6
  • 74
    • 0031921995 scopus 로고    scopus 로고
    • Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21
    • Nance MA, Raabe WA, Midani H, Kolodny EH, David WS, Megna L, et al. Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered 1998;48:169-178
    • (1998) Hum Hered , vol.48 , pp. 169-178
    • Nance, M.A.1    Raabe, W.A.2    Midani, H.3    Kolodny, E.H.4    David, W.S.5    Megna, L.6
  • 75
    • 0031411418 scopus 로고    scopus 로고
    • Another pedigree with pure autosomal dominant spastic paraplegia (ADFSP) from Tibet mapping to 14q11.2-q24.3
    • Huang S, Zhuyu, Li H, Labu, Baizhu, Lo WHY, et al. Another pedigree with pure autosomal dominant spastic paraplegia (ADFSP) from Tibet mapping to 14q11.2-q24.3. Hum Genet 1998;100:620-623
    • (1998) Hum Genet , vol.100 , pp. 620-623
    • Huang, S.1    Zhuyu2    Li, H.3    Labu4    Baizhu5    Lo, W.H.Y.6
  • 76
    • 0028145138 scopus 로고
    • Linkage of "pure" autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
    • Abstract
    • Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, 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 (Abstract):1263-1267
    • (1994) Hum Mol Genet , vol.3 , pp. 1263-1267
    • Hentati, A.1    Pericak-Vance, M.A.2    Hung, W.Y.3    Belal, S.4    Laing, N.5    Boustany, R.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.