Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions

References

• Verkerk AJ, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65(5), 905–914 (1991).
   PubMed Web of Science ®Google Scholar
• Kremer EJ, Pritchard M, Lynch M et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science252(5013), 1711–1714 (1991).
   PubMed Web of Science ®Google Scholar
• Fu YH, Pizzuti A, Fenwick RG Jr et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science255(5049), 1256–1258 (1992).
   PubMed Web of Science ®Google Scholar
• Liquori CL, Ricker K, Moseley ML et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science293(5531), 864–867 (2001).
   PubMed Web of Science ®Google Scholar
• Matsuura T, Yamagata T, Burgess DL et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genet.26(2), 191–194 (2000).
   PubMed Web of Science ®Google Scholar
• Lalioti MD, Scott HS, Buresi C et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature386(6627), 847–851 (1997).
   PubMed Web of Science ®Google Scholar
• Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science272(5261), 548–551 (1996).
   PubMedGoogle Scholar
• Brais B, Bouchard JP, Xie YG et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet.18(2), 164–167 (1998). Erratum in: Korcyn AD Nature Genet.19(4), 404 (1998) (corrected to Korczyn AD).
   PubMed Web of Science ®Google Scholar
• Delot E, King LM, Briggs MD, Wilcox WR, Cohn DH. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. Hum. Mol. Genet.8(1), 123–128 (1999).
   PubMed Web of Science ®Google Scholar
• Sinden RR. Biological implications of the DNA structures associated with disease-causing triplet repeats. Am. J. Hum. Genet.64(2), 346–353 (1999).
   PubMed Web of Science ®Google Scholar
• Perutz MF, Windle AH. Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats. Nature412(6843), 143–144 (2001).
   PubMedGoogle Scholar
• Evert BO, Wullner U, Klockgether T. Cell death in polyglutamine diseases. Cell Tissue Res.301(1), 189–204 (2000).
   PubMedGoogle Scholar
• Greene E, Handa V, Kumari D, Usdin K. Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia. Cytogenet. Genome Res.100(1–4), 65–76 (2003).
   PubMedGoogle Scholar
• Tassone F, Hagerman PJ. Expression of the FMR1 gene. Cytogenet Genome Res.100(1–4), 124–128 (2003).
   PubMedGoogle Scholar
• Nakajima H, Kimura F, Nakagawa T et al. Effects of androgen receptor polyglutamine tract expansion on proliferation of NG108-15 cells. Neurosci. Lett.222(2), 83–86 (1997).
   PubMed Web of Science ®Google Scholar
• Butler R, Leigh PN, McPhaul MJ, Gallo JM. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet.7(1), 121–127 (1998).
   PubMed Web of Science ®Google Scholar
• Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet.74(5), 793–804 (2004).
   PubMedGoogle Scholar
• Speer MC, Pericak-Vance MA, Yamaoka L et al. Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. Neurology40(4), 671–676 (1990).
   PubMedGoogle Scholar
• Monros E, Smeyers P, Ramos MA, Prieto F, Palau F. Prenatal diagnosis of Friedreich ataxia: improved accuracy by using new genetic flanking markers. Prenat. Diagn.15(6), 551–554 (1995).
   PubMedGoogle Scholar
• Falk M, Froster U, Vojtiskova M. Methods of determination of the number of CTG/CAG repeats in trinucleotide repeats in the human genome. Cas. Lek.Cesk.142(10), 609–614 (2003).
   PubMedGoogle Scholar
• Bruland O, Almqvist EW, Goldberg YP, Boman H, Hayden MR, Knappskog PM. Accurate determination of the number of CAG repeats in the Huntington’s disease gene using a sequence-specific internal DNA standard. Clin. Genet.55(3), 198–202 (1999).
   PubMedGoogle Scholar
• Houdayer C, Lourdaux J, Billette de Villemeur T et al. Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes. Genet. Test.6(2), 135–139 (2002).
   PubMedGoogle Scholar
• Brugnoni R, Morandi L, Brambati B et al. A new non-radioactive method for the screening and prenatal diagnosis of myotonic dystrophy patients. J. Neurol.245(5), 289–293 (1998).
   PubMedGoogle Scholar
• Vuillaume I, Schraen S, Rousseaux J, Sablonniere B. Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with 7 neurodegenerative disorders. Diagn. Mol. Pathol.7(3), 174–179 (1998).
   PubMedGoogle Scholar
• Fokstuen S, Myring J, Meredith L, Ravine D, Harper PS. Eight years’ experience of direct molecular testing for myotonic dystrophy in Wales. J. Med. Genet.38(12), E42 (2001).
   Google Scholar
• Bi X, Xie H, Zheng H et al. DNA analysis in a suspected individual with myotonic dystrophy family history and her abortus. Chin. Med. J. (Engl.)115(11), 1628–1631 (2002).
   PubMedGoogle Scholar
• White BJ, Ayad M, Fraser A et al. A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation. Genet. Test.3(3), 291–296 (1999).
   PubMedGoogle Scholar
• Durr A, Cossee M, Agid Y et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N. Engl. J. Med.335(16), 1169–1175 (1996).
   PubMed Web of Science ®Google Scholar
• Maciel P, Costa MC, Ferro A et al. Improvement in the molecular diagnosis of Machado-Joseph disease. Arch. Neurol.58(11), 1821–1827 (2001).
   PubMedGoogle Scholar
• Nance MA, Mathias-Hagen V, Breningstall G, Wick MJ, McGlennen RC. Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s disease. Neurology52(2), 392–394 (1999).
   PubMed Web of Science ®Google Scholar
• Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin. Genet.64(1), 70–73 (2003).
   PubMedGoogle Scholar
• Cagnoli C, Michielotto C, Matsuura T et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J. Mol. Diagn.6(2), 96–100 (2004).
   PubMedGoogle Scholar
• Hussey J, Lockhart PJ, Seltzer W et al. Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. Genet. Test.6(3), 217–220 (2002).
   PubMedGoogle Scholar
• Erginel-Unaltuna N, Akbas F. Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1). J. Clin. Lab. Anal.18(1), 50–54 (2004).
   PubMedGoogle Scholar
• Sallinen R, Vihola A, Bachinski LL et al. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul. Disord.14(4), 274–283 (2004).
   PubMedGoogle Scholar
• Dorschner MO, Barden D, Stephens K. Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J. Mol. Diagn.4(2), 108–113 (2002).
   PubMedGoogle Scholar
• Culjkovic B, Ruzdijic S, Rakic L, Romac S. Improved polymerase chain reaction conditions for quick diagnostics of Huntington’s disease. Brain Res. Brain Res. Protoc.2(1), 44–46 (1997).
   PubMedGoogle Scholar
• Condorelli DF, Milana G, Dell’Albani P et al. Routine clinical application of the FRAXA Pfu PCR assay: limits and utility. Clin. Genet.50(5), 366–371 (1996).
   PubMedGoogle Scholar
• Hamdan H, Tynan JA, Fenwick RA, Leon JA. Automated Detection of Trinucleotide Repeats in Fragile X Syndrome. Mol. Diagn.2(4), 259–269 (1997).
   PubMedGoogle Scholar
• Francis D, Burgess T, Mitchell J, Slater H. Identification of small FRAXA premutations. Mol. Diagn.5(3), 221–225 (2000).
   PubMedGoogle Scholar
• Chakrabarti R, Schutt CE. Novel sulfoxides facilitate GC-rich template amplification. Biotechniques32(4), 866–874 (2002).
   PubMedGoogle Scholar
• Panagopoulos I, Lassen C, Kristoffersson U, Aman P. A novel PCR-based approach for the detection of the Huntington’s disease associated trinucleotide repeat expansion. Hum. Mutat.13(3), 232–236 (1999).
   PubMedGoogle Scholar
• Hecimovic S, Vlasic J, Barisic L, Markovic D, Culic V, Pavelic K. A simple and rapid analysis of triplet repeat diseases by expand long PCR. Clin. Chem. Lab. Med.39(12), 1259–1262 (2001).
   PubMed Web of Science ®Google Scholar
• Zhou Y, Law HY, Boehm CD et al. Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J. Med. Genet.41(4), E45 (2004).
   PubMed Web of Science ®Google Scholar
• Chong SS, Almqvist E, Telenius H et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington’s disease: evidence from single sperm analyses. Hum. Mol. Genet.6(2), 301–309 (1997).
   PubMed Web of Science ®Google Scholar
• Leeflang EP, Zhang L, Tavare S et al. Single sperm analysis of the trinucleotide repeats in the Huntington’s disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet.4(9), 1519–1526 (1995).
   PubMedGoogle Scholar
• Takiyama Y, Sakoe K, Amaike M et al. Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. Hum. Mol. Genet.8(3), 453–457 (1999).
   PubMed Web of Science ®Google Scholar
• Drury KC, Liu MC, Lilleberg S, Kipersztok S, Williams RS. Results on single cell PCR for Huntington’s gene and WAVE product analysis for preimplantation genetic diagnosis. Mol. Cell. Endocrinol.183(Suppl.1), S1–S4 (2001).
   PubMedGoogle Scholar
• Georgiou I, Sermon K, Lissens W et al. Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). Hum. Genet.108(6), 494–498 (2001).
   PubMedGoogle Scholar
• Hashida H, Goto J, Kurisaki H, Mizusawa H, Kanazawa I. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Ann. Neurol.41(4), 505–511 (1997).
   PubMedGoogle Scholar
• Matsuura T, Sasaki H, Yabe I et al. Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. J. Neurol.246(9), 835–839 (1999).
   PubMedGoogle Scholar
• Hellenbroich Y, Schwinger E, Zuhlke C. Limited somatic mosaicism for Friedreich’s ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes. Acta. Neurol. Scand.103(3), 188–192 (2001).
   PubMedGoogle Scholar
• Cossee M, Durr A, Schmitt M et al. Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann. Neurol.45(2), 200–206 (1999).
   PubMed Web of Science ®Google Scholar
• Forrest SM, Knight M, Delatycki MB et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics1(4), 253–257 (1998).
   PubMed Web of Science ®Google Scholar
• Williams LC, Hegde MR, Nagappan R et al. Null alleles at the Huntington’s disease locus: implications for diagnostics and CAG repeat instability. Genet. Test.4(1), 55–60 (2000).
   PubMedGoogle Scholar
• Daly TM, Rafii A, Martin RA, Zehnbauer BA. Novel polymorphism in the FMR1 gene resulting in a ‘pseudodeletion’ of FMR1 in a commonly used fragile X assay. J. Mol. Diagn.2(3), 128–131 (2000).
   PubMedGoogle Scholar
• Holmes SE, O’Hearn E, Rosenblatt A et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington’s disease-like 2. Nature Genet.29(4), 377–378 (2001). Erratum in: Nature Genet.30(1), 123 (2001).
   PubMed Web of Science ®Google Scholar
• Stevanin G, Fujigasaki H, Lebre AS et al. Huntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain126(Pt 7), 1599–1603 (2003).
   PubMedGoogle Scholar
• Shimohata T, Onodera O, Honma Y et al. Gene diagnosis of patients with chorea. Rinsho Shinkeigaku44(3), 149–153 (2003).
   Google Scholar
• Greco CM, Hagerman RJ, Tassone F et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain125(Pt 8), 1760–1771 (2002).
   PubMed Web of Science ®Google Scholar
• Jacquemont S, Hagerman RJ, Leehey M et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet.72(4), 869–878 (2003).
   PubMed Web of Science ®Google Scholar
• Brunberg JA, Jacquemont S, Hagerman RJ et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am. J. Neuroradiol.23(10), 1757–1766 (2002).
   PubMed Web of Science ®Google Scholar
• Margolis RL. Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future. Expert Rev. Mol. Diagn.3(6), 715–732 (2003).
   PubMed Web of Science ®Google Scholar
• Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol.3(5), 291–304 (2004).
   PubMed Web of Science ®Google Scholar
• Gasteiger M, Grasbon-Frodl E, Neitzel B, Kooy F, Holinski-Feder E. FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing. Genet. Test.7(4), 303–308 (2003).
   PubMedGoogle Scholar
• Sharma R, Bhatti S, Gomez M, Clark RM et al. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum. Mol. Genet.11(18), 2175–2187 (2002).
   PubMedGoogle Scholar
• Moseley ML, Schut LJ, Bird TD et al. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum. Mol. Genet.9(14), 2125–2130 (2000).
   PubMedGoogle Scholar
• Kato T, Tanaka F, Yamamoto M et al. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Clin. Genet.58(1), 69–73 (2000).
   PubMedGoogle Scholar
• Burman RW, Anoe KS, Popovich BW. Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics. Genet. Med.2(4), 242–248 (2000).
   PubMedGoogle Scholar
• Chan EY, Luthi-Carter R, Strand A et al. Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington’s disease. Hum. Mol. Genet.11(17), 1939–1951 (2002).
   PubMedGoogle Scholar
• Sipione S, Rigamonti D, Valenza M et al. Early transcriptional profiles in Huntington-inducible striatal cells by microarray analyses. Hum. Mol. Genet.11(17), 1953–1965 (2002).
   PubMed Web of Science ®Google Scholar
• Brown V, Jin P, Ceman S et al. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell107(4), 477–487 (2001).
   PubMed Web of Science ®Google Scholar
• Eriksson M. Real-time RT-PCR for CTG repeat-containing genes. Methods Mol. Biol.277, 77–84 (2004).
   PubMedGoogle Scholar
• Pianese L, Turano M, Lo Casale MS et al. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. J. Neurol. Neurosurg. Psychiatry75(7), 1061–1063 (2004).
   PubMed Web of Science ®Google Scholar
• Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet.10(14), 1449–1454 (2001).
   PubMed Web of Science ®Google Scholar
• Committee on Genetics. Molecular genetic testing in pediatric practice: a subject review. Pediatrics106, 1451–1455 (2000).
   Google Scholar
• Godard B, ten Kate L, Evers-Kiebooms G, Ayme S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur. J. Hum. Genet.11(Suppl. 2), S49–S87 (2003).
   Google Scholar
• Prevost C, Veillette S, Perron M et al. Psychosocial impact of predictive testing for myotonic dystrophy type 1. Am. J. Med. Genet.126A(1), 68–77 (2004).
   PubMedGoogle Scholar
• Almqvist EW, Brinkman RR, Wiggins S, Hayden MR. Canadian Collaborative Study of Predictive Testing. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clin. Genet.64(4), 300–309 (2003).
   PubMed Web of Science ®Google Scholar
• Sung WC, Lee GB, Tzeng CC, Chen SH. Plastic microchip electrophoresis for genetic screening: the analysis of polymerase chain reactions products of fragile X (CGG)n alleles. Electrophoresis22(6), 1188–1193 (2001).
   PubMed Web of Science ®Google Scholar
• Santos CB, Costa Lima MA, Pimentel MM. A new PCR assay useful for screening of FREXE/FMR2 men impairment among males. Hum. Mutat.18(2), 157–162 (2001).
   PubMedGoogle Scholar
• Mulley JC, Yu S, Loesch DZ et al. FRAXE and mental retardation. J. Med. Genet.32(3), 162–169 (1995).
   PubMedGoogle Scholar
• Fan X, Rouleau GA. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Can. J. Neurol. Sci.30(1), 8–14 (2003).
   PubMedGoogle Scholar
• Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA). J. Neural. Transm. Suppl.58, 167–180 (2000).
   Google Scholar
• Tan EK. Autosomal dominant spinocerebellar ataxias: an Asian perspective. Can. J. Neurol. Sci.30(4), 361–367 (2003).
   PubMedGoogle Scholar
• Nardacchione A, Orsi L, Brusco A et al. Definition of the smallest pathological CAG expansion in SCA7. Clin. Genet.56(3), 232–234 (1999).
   PubMedGoogle Scholar
• Tsuji S. Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions. Arch. Neurol.61(2), 183–184 (2004).
   PubMedGoogle Scholar
• Oda M, Maruyama H, Komure O et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch. Neurol.61(2), 209–212 (2004).
   PubMedGoogle Scholar
• Amiel J, Trochet D, Clement-Ziza, Munnich A, Lyonnet S. Polyalanine expansions in human. Hum. Mol. Genet.13(2), R235–R243 (2004).
   Web of Science ®Google Scholar
• Matsuyama Z, Kawakami H, Maruyama H et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum. Mol. Genet.6(8), 1283–1287 (1997).
   PubMed Web of Science ®Google Scholar