Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice

European Journal of Human Genetics

Volumn 11, Issue 11, 2003, Pages 872-878

  do Carmo Costa, Maria ^a   Magalhães, Paula ^a   Ferreirinha, Fátima ^a   Guimarães, Laura ^a   Januário, Cristina ^b,c   Gaspar, Isabel ^d   Loureiro, Leal ^a,e   Vale, José ^d   Garrett, Carolina ^f   Regateiro, Fernando ^b,c   Magalhães, Marina ^g   Sousa, Alda ^a,h   Maciel, Patrícia ^a,i   Sequeiros, Jorge ^a,h  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d HOSPITAL EGAS MONIZ   (Portugal)

^e Hospital Sao Teotonio   (Portugal)

^f HOSPITAL DE SÃO JOÃO   (Portugal)

^g HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^h UNIVERSITY OF PORTO   (Portugal)

ⁱ UNIVERSITY OF MINHO   (Portugal)

Author keywords

Community genetics; Ethical dilemma; Genetic testing; Homoallelism; Homozygosity; Intermediate alleles; Polyglutamine disorders

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL PRACTICE; CONTROLLED STUDY; DEGENERATIVE DISEASE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HUNTINGTON CHOREA; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MEDICAL SPECIALIST; PATIENT REFERRAL; PORTUGAL; PRENATAL SCREENING; PRIORITY JOURNAL; PROMOTER REGION; SYMPTOMATOLOGY;

ADOLESCENT; AGE OF ONSET; AGED; ALLELES; CHILD; FEMALE; GENETIC COUNSELING; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MUTATION; PORTUGAL; TRINUCLEOTIDE REPEATS;

EID: 10744224655     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201055     Document Type: Article

References (29)

1. Martin JB, Gusella JF: Huntington's disease: pathogenesis and management. N Engl J Med 1986; 315: 1267-1276.
2. Harper PS: The epidemiology of Huntington's disease. J Med Genet 1992; 89: 365-372.
3. The Huntington Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-983.
4. The American College of Medical Genetics/American Society of Human Genetics/Huntington Disease Genetic Testing Working Group: Laboratory Guidelines for Huntington Disease Genetic Testing. Am J Hum Genet 1998; 62: 1243-1247.
5. Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R: A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet 1999; 7: 217-222.
6. Hayden MR: Huntington's disease. Berlin, Heidelberg: Springer-Verlag, 1981.
7. Sambrook J, Fritsh EF, Maniatis T: Molecular cloning-a laboratory manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
8. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR: A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994; 3: 65-67.
9. Guida M, Fenwick G, Papp AC, Snyder PJ, Sedra M, Prior TW: Southern transfer protocol for confirmation of Huntington's disease. Clin Chem 1996; 42: 1711-1712.
10. Siesling S, Vegter-van de Vlis M, Belfroid RDM, Maat-Kievit JA, Kremer HPH, Roos RAC: Family history and DNA analysis in patients with suspected Huntington's disease. J Neurol, Neurosurg Psychiat 2000; 69: 54-59.
11. Almqvist EW, Elterman DS, MacLeod PM, Hayden MR: High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 2001; 60: 198-205.
12. Kremer B, Goldberg P, Andrew SE et al: A worlwide study of Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330: 1401-1406.
13. Andrew SE, Goldberg YP, Kremer B et al: Huntington disease without CAG expansion: phenocopies or errors in assignments? Am J Hum Genet 1994; 54: 852-863.
14. Moore RC, Xiang F, Monaghan J et al: Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001; 69: 1385-1388.
15. Holmes SE, O'Hearn E, Rosenblatt A et al: A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 2001; 29: 377-378.
16. Andrew SE, Goldberg YP, Hayden MR: Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet 1997; 6: 2005-2010.
17. Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR: Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 2000; 68: 373-385.
18. Goldberg YP, Kremer B, Andrew SE et al: Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 1993; 5: 174-179.
19. Goldberg YP, McMurray CT, Zeisler J et al: Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995; 4: 1911-1918.
20. Snell RG, MacMillan JC, Cheadle JP et al: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993; 4: 393-397.
21. Andrew SE, Goldberg YP, Kremer B et al: The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 1993; 4: 398-403.
22. James CM, Houlihan GD, Snell RG, Cheadle JP, Harper PS: Late-onset Huntington's disease: a clinical and molecular study. Age Ageing 1994; 23: 445-448.
23. Craufurd D, Dodge A: Mutation size and age at onset in Huntington's disease. J Med Genet 1993; 30: 1008-1011.
24. Simpson SA, Besson J, Alexander D, Allan K, Johnston AW: One hundred requests for presymptomatic testing in Huntington's disease. Clin Genet 1992; 41: 326-330.
25. Harper PS, Lim C, Craufurd D, on behalf of the UK Huntington's Disease Prediction Consortium: Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium. J Med Genet 2000; 37: 567-571.
26. Evans DGR, Maher ER, Macleod R, Davies DR, Craufurd D: Uptake of genetic testing for cancer predisposition. J Med Genet 1997; 34: 746-748.
27. Myers RH, Leavitt J, Farrer LA et al: Homozygote for Huntington's disease. Am J Hum Genet 1989; 45: 615-618.
28. Durr A, Hahn-Barma V, Brice A, Pecheux C, Dode C, Feingold J: Homozygosity in Huntington's disease. J Med Genet 1999; 36: 172-173.
29. Working Party of the Clinical Genetics Society: Report on the genetic testing of children. J Med Genet 1994; 31: 785-797.