Monozygotic twins with LRRK2 mutations: Genetically identical but phenotypically discordant

Movement Disorders

Volumn 27, Issue 10, 2012, Pages 1203-1204

  Schneider, Susanne A ^a   Johnson, Michael R ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE RICH REPEAT KINASE 2;

DNA METHYLATION; DNA SEQUENCE; EDITORIAL; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC IDENTIFICATION; HISTONE MODIFICATION; MONOZYGOTIC TWINS; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION;

DISEASES IN TWINS; HUMANS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; TWINS, MONOZYGOTIC;

EID: 84866272743     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24991     Document Type: Editorial

References (18)

1. Anca MH, Gazit E, Loewenthal R, et al. Different phenotypic expression in monozygotic twins with Huntington disease. Am J Med Genet A 2004; 124A: 89-91.
2. Friedman JH, Trieschmann ME, Myers RH et al. Monozygotic twins discordant for Huntington disease after 7 years. Arch Neurol 2005; 62: 995-997.
3. Gomez-Esteban JC, Lezcano E, Zarranz JJ, et al. Monozygotic twins suffering from Huntington's disease show different cognitive and behavioural symptoms. Eur Neurol 2007; 57: 26-30.
4. Sudarsky L, Myers RH, Walshe TM. Huntington's disease in monozygotic twins reared apart. J Med Genet 1983; 20: 408-411.
5. Ketelaar M, Hofstra R, Hayden M. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. Clin Genet 2012; 81: 325-333.
6. Gatz M, Pedersen NL, Crowe M, et al. Defining discordance in twin studies of risk and protective factors for late life disorders. Twin Res 2000; 3: 159-164.
7. Kimani JW, Yoshiura K, Shi M, et al. Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate. Twin Res Hum Genet 2009; 12: 462-468.
8. Munhoz RP, Wakutani Y, Marras C, et al. The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins. Mov Disord 2008; 23: 290-294.
9. Xiromerisiou G, Houlden H, Sailer A, et al. Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord 2012; 27: 1290-1294.
10. Johnson MR, Milne RL, Torn-Broers Y, et al. A twin study of genetic influences on epilepsy outcome. Twin Res 2003; 6: 140-146.
11. Farrer M, Ross OA. LRRK2-related Parkinson disease. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2006.
12. Munhoz RP, Wakutani Y, Marras C, et al. The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins. Mov Disord 2008; 23: 290-294.
13. Ollikainen M, Craig JM. Epigenetic discordance at imprinting control regions in twins. Epigenomics 2011; 3: 295-306.
14. Bruder CE, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008; 82: 763-771.
15. Itsara A, Wu H, Smith JD, et al. De novo rates and selection of large copy number variation. Genome Res 2010; 20: 1469-1481.
16. Norremolle A, Hasholt L, Petersen CB, et al. Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins. Am J Med Genet A 2004; 130A: 154-159.
17. Mitchell KJ. The genetics of brain wiring: from molecule to mind. PLoS Biol 2007; 5: e113.
18. Schneider SA, Schneider UH, Klein C. Genetic testing for neurologic disorders. Semin Neurol 2011; 31: 542-552.