CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J-M Lee; E M Ramos; J-H Lee; T Gillis; J S Mysore; M R Hayden; S C Warby; P Morrison; M Nance; C A Ross; R L Margolis; F Squitieri; S Orobello; S Di Donato; E Gomez-Tortosa; C Ayuso; O Suchowersky; R J A Trent; E McCusker; A Novelletto; M Frontali; R I Jones; T Ashizawa; S Frank; M H Saint-Hilaire; S M Hersch; H D Rosas; D Lucente; M Harrison; A Zanko; R K Abramson; K Marder; J Sequeiros; J S Paulsen; G B Landwehrmeyer; R H Myers; M E MacDonald; J F Gusella; PREDICT-HD study of the Huntington Study Group (HSG); Lena Elisabeth Hjermind; Jørgen Erik Nielsen

doi:10.1212/WNL.0b013e318249f683

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J-M Lee, E M Ramos, J-H Lee, T Gillis, J S Mysore, M R Hayden, S C Warby, P Morrison, M Nance, C A Ross, R L Margolis, F Squitieri, S Orobello, S Di Donato, E Gomez-Tortosa, C Ayuso, O Suchowersky, R J A Trent, E McCusker, A NovellettoM Frontali, R I Jones, T Ashizawa, S Frank, M H Saint-Hilaire, S M Hersch, H D Rosas, D Lucente, M Harrison, A Zanko, R K Abramson, K Marder, J Sequeiros, J S Paulsen, G B Landwehrmeyer, R H Myers, M E MacDonald, J F Gusella, PREDICT-HD study of the Huntington Study Group (HSG), Lena Elisabeth Hjermind, Jørgen Erik Nielsen

Neurology, Department of

233 Citations (Scopus)

Abstract

Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

Original language	English
Journal	Neurology
Volume	78
Issue number	10
Pages (from-to)	690-5
Number of pages	6
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0b013e318249f683
Publication status	Published - 2012

Keywords

Adult
Age of Onset
Alleles
Female
Genotype
Humans
Huntington Disease
Male
Trinucleotide Repeat Expansion

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Lee, J-M., Ramos, E. M., Lee, J-H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J. A., McCusker, E., ... Nielsen, J. E. (2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology, 78(10), 690-5. https://doi.org/10.1212/WNL.0b013e318249f683

Lee, J-M, Ramos, EM, Lee, J-H, Gillis, T, Mysore, JS, Hayden, MR, Warby, SC, Morrison, P, Nance, M, Ross, CA, Margolis, RL, Squitieri, F, Orobello, S, Di Donato, S, Gomez-Tortosa, E, Ayuso, C, Suchowersky, O, Trent, RJA, McCusker, E, Novelletto, A, Frontali, M, Jones, RI, Ashizawa, T, Frank, S, Saint-Hilaire, MH, Hersch, SM, Rosas, HD, Lucente, D, Harrison, M, Zanko, A, Abramson, RK, Marder, K, Sequeiros, J, Paulsen, JS, Landwehrmeyer, GB, Myers, RH, MacDonald, ME, Gusella, JF, PREDICT-HD study of the Huntington Study Group (HSG), Hjermind, LE & Nielsen, JE 2012, 'CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion', Neurology, vol. 78, no. 10, pp. 690-5. https://doi.org/10.1212/WNL.0b013e318249f683

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abstract = "Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.",

keywords = "Adult, Age of Onset, Alleles, Female, Genotype, Humans, Huntington Disease, Male, Trinucleotide Repeat Expansion",

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doi = "10.1212/WNL.0b013e318249f683",

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T1 - CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

AU - Lee, J-M

AU - Ramos, E M

AU - Lee, J-H

AU - Gillis, T

AU - Mysore, J S

AU - Hayden, M R

AU - Warby, S C

AU - Morrison, P

AU - Nance, M

AU - Ross, C A

AU - Margolis, R L

AU - Squitieri, F

AU - Orobello, S

AU - Di Donato, S

AU - Gomez-Tortosa, E

AU - Ayuso, C

AU - Suchowersky, O

AU - Trent, R J A

AU - McCusker, E

AU - Novelletto, A

AU - Frontali, M

AU - Jones, R I

AU - Ashizawa, T

AU - Frank, S

AU - Saint-Hilaire, M H

AU - Hersch, S M

AU - Rosas, H D

AU - Lucente, D

AU - Harrison, M

AU - Zanko, A

AU - Abramson, R K

AU - Marder, K

AU - Sequeiros, J

AU - Paulsen, J S

AU - Landwehrmeyer, G B

AU - Myers, R H

AU - MacDonald, M E

AU - Gusella, J F

AU - PREDICT-HD study of the Huntington Study Group (HSG)

AU - Hjermind, Lena Elisabeth

AU - Nielsen, Jørgen Erik

PY - 2012

Y1 - 2012

N2 - Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

AB - Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

KW - Adult

KW - Age of Onset

KW - Alleles

KW - Female

KW - Genotype

KW - Humans

KW - Huntington Disease

KW - Male

KW - Trinucleotide Repeat Expansion

U2 - 10.1212/WNL.0b013e318249f683

DO - 10.1212/WNL.0b013e318249f683

M3 - Journal article

C2 - 22323755

VL - 78

SP - 690

EP - 695

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 10

ER -

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Abstract

Keywords

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