A Locus for Complicated Hereditary Spastic Paraplegia Maps to Chromosome 1q24-q32

Annals of Neurology

Volumn 54, Issue 6, 2003, Pages 796-803

  Blumen, Sergiu C ^a,b   Bevan, Simon ^c   Abu Mouch, Saif ^a   Negus, David ^d   Kahana, Michael ^a   Inzelberg, Rifka ^a,b   Mazarib, Aziz ^a   Mahamid, Ahmad ^a   Carasso, Ralph L ^a,b   Slor, Hanoch ^e   Withers, David ^d   Nisipeanu, Puiu ^a,b   Navon, Ruth ^e   Reid, Evan ^f  

^a HILLEL YAFFE MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d BABRAHAM INSTITUTE   (United Kingdom)

^e TEL AVIV UNIVERSITY   (Israel)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 1Q; CHROMOSOME MAP; CONSANGUINITY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC RISK; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SKIN PIGMENTATION;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENE FREQUENCY; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; SKIN DISEASES, GENETIC; SKIN PIGMENTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 10744230526     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10768     Document Type: Article

References (35)

1. Reid E. The hereditary spastic paraplegias. J Neurol 1999;246:995-1003.
2. Fink JK. Hereditary spastic paraplegia. In Rimoin DL, Pyeritz RE, Connor JM, Korf BR, eds. Emery and Rimoin's principles and practice of medical genetics. 4th edition. London: Harcourt UK, 2002:3124-3145.
3. Fink JK. Hereditary spastic paraplegia: the pace quickens. Ann Neurol 2002;51:669-672.
4. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003;40:81-86.
5. Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984.
6. Abdallat A, Davis SM, Farrage J, McDonald WI. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J Neurol Neurosurg Psychiatry 1980;43:962-966.
7. Lison M, Kornbrut B, Feinstein A, et al. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am J Med Genet 1981;9:351-357.
8. Mukamel M, Weitz R, Metzker A, Varsano I. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. Am J Dis Child 1985;139:1090-1092.
9. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiat 1981;44:871-883.
10. Reid E, Grayson C, Rogers MT, Rubinsztein DC. Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia: a clinical and molecular genetic study of 28 United Kingdom families. Brain 1999;122:1741-1755.
11. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
12. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Géné thon human genetic linkage map. Nat Genet 1994;7:246-339.
13. Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-154.
14. Reid E, Dearlove AM, Osborn O, et al. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000;66:728-732.
15. Cottingham RW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-263.
16. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered 1994;44:225-237.
17. Lathrop GM, Lalouel J-M. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-465.
18. Crum RM, Anthony JA, Bassett SS, Folstein MF. Population-based norms for the mini-mental state examination by age and educational level. JAMA 1993;269:2386-2391.
19. Brown L, Sherbenou RJ, Johnsen SK. Test of nonverbal intelligence. 2nd ed. Austin, TX: Pro-ed, 1990.
20. Baker FM, Fuji D, Hishinuma ES. Association between reported education and intellectual functioning in an ethnically diverse adult psychiatric inpatient sample. J Natl Med Assoc 2002;94:47-53.
21. Bostanjopoulou S, Kiosseoglou G, Katsarou Z, Alevriadou A. Concurrent validity of the Test of Nonverbal Intelligence in Parkinson's disease patients. J Psychol 2001;135:205-212.
22. Wechsler D. Wechsler Adult Intelligence Scale-Revised. San Antonio, TX: The Psychological Corporation, 1981.
23. Wechsler D. Wechsler Intelligence Scale for Children-Revised. San Antonio, TX: The Psychological Corporation, 1974.
24. Vance B, Hankins N, Reynolds F. Prediction of Wechsler Intelligence Scale for Children-Revised Full Scale IQ from the Quick Test of Intelligence and the Test of Nonverbal Intelligence for a referred sample of children and youth. J Clin Psychol 1988;44:793-794.
25. Stewart RM, Tunell G, Ehle A. Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. Neurology 1981;31:754-757.
26. Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997;34:656-665.
27. Tezcan I, Demir E, Asan E, et al. A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings. Clin Genet 1997;51:118-121
28. King RA, Oetting WS, Summers CG, et al. Abnormalities of pigmentation. In: Rimoin DL, Pyeritz RE, Connor JM, Korf BR, eds. Emory and Rimoin's principles and practice of medical genetics. 4th ed. London: Harcourt UK, 2002:3731-3785.
29. Jeffery G, Schutz G, Montoliu L. Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. Dev Biol 1994;166:460-464.
30. Maes T, Barcelo A, Buesa C. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. Genomics 2002;80:21-30.
31. Moraes CT. A helicase is born. Nat Genet 2001;28:200-201.
32. Bauer MF, Gempel K, Reichert AS, et al. Genetic and structural characterization of the human mitochondrial inner membrane translocase. J Mol Biol 1999;289:69-82
33. Kaldi K, Neupert W. Protein translocation into mitochondria. Biofactors 1998;8:221-224.
34. Kunz B, Lierheimer R, Rader C, et al. Axonin-1/TAG-1 mediates cell-cell adhesion by a cis-assisted trans-interaction. J Biol Chem 2002;277:4551-4557
35. De Angelis E, Watkins A, Schafer M, et al. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. Hum Mol Genet 2002;11:1-12.