Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

Movement Disorders

Volumn 19, Issue 6, 2004, Pages 641-648

  Nicholas, Anthony P ^a   O'Hearn, Elizabeth ^b   Holmes, Susan E ^b   Chen, Dung Tsa ^c   Margolis, Russell L ^b  

^a The University of Alabama at Birmingham   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c University of Alabama at Birmingham   (United States)

Author keywords

Anticipation; Familial spastic paraplegia; Genetic linkage analysis; Repeat expansion detection

Indexed keywords

SPASTIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLADDER DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CLONUS; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; HYPERREFLEXIA; LEG DISEASE; MALE; MUSCLE TONE; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; ONSET AGE; PEDIGREE; PREDICTION; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SYMPTOMATOLOGY;

ADENOSINE TRIPHOSPHATASES; ADULT; CALCIUM-BINDING PROTEINS; DNA REPEAT EXPANSION; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PARAPARESIS, SPASTIC; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; VIDEOTAPE RECORDING;

EID: 4444381420     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20077     Document Type: Article

References (36)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
2. Fink JK, Heiman-Patterson T. Hereditary spastic paraplegia: advances in genetic research. Neurology 1996;46:1507-1514.
3. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000;9:637-644.
4. Lindsey JC, Lusher ME, McDermott CJ, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 2000;37:759-765.
5. Tallaksen CME, Dürr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opinion Neurol 2001;14:457-463.
6. Figlewicz DA, Bird TD. "Pure" hereditary spastic paraplegias. The story becomes complicated. Neurology 1999;53:5-7.
7. Reid E. The hereditary spastic paraplegias. J Neurol 1999;246: 995-1003.
8. McDermott CJ, White K, Bushby K, Shaw PJ. Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 2000;69:150-160.
9. Harding AD. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981; 44:871-883.
10. Bürger J, Fonknechten N, Hoeltzenbein M, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet 2000;8:771-776.
11. Del-Favero J, Goossens D, De Jonghe P, et al. Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation. Hum Genet 1999;105:217-225.
12. Nielsen JE, Koefoed P, Abell K, et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 1997;6:1811-1816.
13. 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 Med Gen 1997;74:26-36.
14. Thurmon TF, He C, Haskell C, Thorpe P, Thurmon SG, Rosen DR. Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. Am J Med Genet 1999;83:392-396.
15. Zander C, Yuan Q-P, Lindblad K, et al. No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-p24. Neurosci Lett 2000;279:41-44.
16. Hazan J, Fronknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296-303.
17. Hentati A, Deng H-X, Zhai H, et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 2000;55:1388-1390.
18. Santorelli FM, Patrono C, Fortini D, et al. Intrafamilial variability in hereditary spastic paraplegia associated with SPG4 gene mutation. Neurology 2000;55:702-705.
19. Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;4:135-139.
20. Svenson IK, Ashley-Koch AE, Gaskell PC, et al. Identification and expression analysis of Spastin gene mutations in Hereditary spastic paraplegia. Am J Hum Genet 2001;68:1077-1085.
21. Dürr A, Brice A, Serdaru M, et al. The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 1994;44:1274-1277.
22. Polo JM, Calleja J, Combarros O, Berciano J. Hereditary "pure" spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry 1993;56:175-181.
23. Schady W, Sheard A. A quantitative study of sensory function in hereditary spastic paraplegia. Brain 1990;113:709-720.
24. Schwarz GA, Liu C-N. Hereditary (familial) spastic paraplegia. AMA Arch Neurol Psychiatry 1956;75:144-162.
25. Higgins JJ, Loveless JM, Goswami S, et al. An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Neurology 2001;56:1482-1485.
26. Fillyaw MJ, Badger GJ, Bradley WG, et al. Quantitative measures of neurological function in chronic neuromuscular diseases and ataxia. J Neurol Sci 1989;92:17-36.
27. White KD, Ince PG, Lusher M, et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000;55:89-94.
28. Byrne PC, McMonagle P, Webb S, Fitzgerald B, Parfrey NA, Hutchinson M. Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p. Neurology 2000;54:1510-1517.
29. Heinzlef O, Paternotte C, Mahieux F, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 1998;35:89-93.
30. Webb S, Coleman D, Byrne P, et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998;121:601-609.
31. Nielsen JE, Krabbe K, Jennum P, et al. Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study. L Neurol Neurosurg Psychiatry 1998;64:61-66.
32. Opjordsmoen S, Nyberg-Hansen R. Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980;61:35-41.
33. Dürr A, Davoine C-S, Paternotte C, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996; 119:1487-1496.
34. Cartlidge NEF, Bone G. Sphincter involvement in hereditary spastic paraplegia. Neurology 1973;23:1160-1163.
35. Jensen LN, Gerstenberg T, Kallestrup EB, Koefoed P, Nordling J, Nielsen JE. Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. J Neurol Neurosurg Psychiatry 1998;65:693-696.
36. Nance MA, Raabe WA, Midani H, et al. Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered 1998;48:169-178.