Linkage of AD HSP and cognitive impairment to chromosome 2p: Haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

European Journal of Human Genetics

Volumn 6, Issue 3, 1998, Pages 275-282

  Byrne, Paula C ^a   Webb, Stewart ^a   McSweeney, Fergus ^a   Burke, Teresa ^a   Hutchinson, Michael ^a   Parfrey, Nollaig A ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Cognitive impairment; Haplotype analysis; Hereditary spastic paraparesis; Low penetrance; SPG4; Variable expression

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 2P; COGNITIVE DEFECT; GENE EXPRESSION; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN EXPERIMENT; ONSET AGE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA;

EID: 0031845205     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200185     Document Type: Article

References (31)

1. Sutherland JM: Familial spastic paraplegia. Handbook of Clinical Neurology 1975; 22: 421-431.
2. Allport RB: Mental retardation and spastic paraparesis in four of eight siblings. Lancet II 1971: 1089.
3. Gigli GL, Diomedi M, Bernardi G et al: Spastic paraplegia, epilepsy and mental retardation in several members of a family: A novel genetic disorder. Am J Med Gen 1993; 45: 711-716.
4. Sommerfelt K, Kyllerman M, Sanner G: Hereditary spastic paraplegia with epileptic myoclonus. Acta Neurol Scand 1991; 84: 157-160.
5. Sjörgen T, Larsson T: Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Scand 1957; 32: suppl, 1-112.
6. Lizcano-Gil LA, Garcia-Cruz D, Bernal-Beltran M, Hernandez A: Association of late onset spastic paraparesis and dementia: Probably an autosomal dominant form of complicated paraplegia. Am J Med Genet 1997; 68: 1-6.
7. Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H: Three patients of complicated form autosomal recessive hereditary spastic paraplegia association with hypoplasia of the corpus callosum. No To Shinkei 1994; 46: 941-997.
8. Hazan J, Fontaine B, Bruyn RP et al: Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994; 3: 1569-1573.
9. Hentati A, Pericak-Vance MA, Lennon F et al: Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994; 3: 1867-1871.
10. Hazan J, Lamy C, Melki J, Munnich A, de Reconco J, Weissenbach J: Autosomal dominant spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993; 5: 163-167.
11. Fink JK, Wu CB, Jones SM et al: Familial spastic paraplegia: Tight linkage to chromosome 15q. Am J Hum Genet 1995; 56: 188-192.
12. Fink JK, Heinmann-Patterson T: Hereditary spastic paraplegia: Advances in genetic research. Neurology 1996; 46: 1507-1515.
13. Baxter P, Connolly S, Curtis A et al: Co-dominant inheritance of hyperekplexia and spastic paraparesis. Dev Med Child Neural 1996; 38: 739-743.
14. Elmslie FV, Hutchings SM, Spencer V et al: Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a family cosegregating for kyperekplexia and spastic paraparesis. J Med Genet 1996; 33: 435-436.
15. 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.
16. Goldblatt J, Ballo R, Sachs B, Moosa A: X-linked spastic paraplegia: Evidence for homogeneity with a variable phenotype. Clin Genet 1989; 35: 116-120.
17. Bonneau D, Rozet J-M, Bulteau C et al: X-linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus. J Med Genet 1993; 30: 381-384.
18. Dürr A, Davoine C-S, Paternotte C et al: Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996; 119: 1487-1496.
19. Cooley WC, Melkonian G, Moses C, Moeschler JB: Autosomal dominant familial spastic paraplegia: Description of a large New England family and a study of management. Dev Med & Child Neurol 1990; 32: 1098-1104.
20. Roth M, Tym E, Mountjoy C: CAMDEX. Br J Psychiatry 1986; 149: 698-709.
21. Webb S, Coleman D, Byrne PC et al: Autosomal dominant hereditary spastic paraparesis with cognitive loss: Linked to chromosome 2p. Brain; in press
22. Bassam BJ, Caetano-Annoles G, Gresshoff PM: Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196: 80-83.
23. Dib C, Fauré S, Samaon D et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-154.
24. Levitt RC, Kiser MB, Dragwa C et al: Fluorescence-based resource for semiautomated genomic analyses using microsatellite markers. Genomics 1994; 24: 361-365.
25. Lathrop GM, Lalouel JM, Julier JM, Ott J: Strategies for multilocus linkage analysis in humans. PNAS 1984; 81: 3443-3446.
26. Lathrop GM, Lalouel JM, Julier JM, Ott J: Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482-498.
27. Schaffer AA, Gupta K, Shriram K, Cottingham RW: Avoiding recomputation in linkage analysis. Hum Hered 1994; 44: 225-237.
28. Ott J: Analysis of Human Genetic Linkage. John Hopkins University Press, 1991; pp 155-158.
29. 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.
30. Bürger 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.
31. Nielsen JE, Koefoed P, Abell K et al: CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Gen 1997; 6: 1811-1817.