Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

Christopher F. McNicoll; Jeanne C. Latourelle; Marcy E. MacDonald; Mark F. Lew; Oksana Suchowersky; Christine Klein; Lawrence I. Golbe; Margery H. Mark; John H. Growdon; G. Frederick Wooten; Ray L. Watts; Mark Guttman; Brad A. Racette; Joel S. Perlmutter; Anwar Ahmed; Holly A. Shill; Carlos Singer; Marie H. Saint-Hilaire; Tiffany Massood; Karen W. Huskey; Anita L. DeStefano; Tammy Gillis; Jayalakshmi Mysore; Stefano Goldwurm; Gianni Pezzoli; Kenneth B. Baker; Ilia Itin; Irene Litvan; Garth Nicholson; Alastair Corbett; Martha Nance; Edward Drasby; Stuart Isaacson; David J. Burn; Patrick F. Chinnery; Peter P. Pramstaller; Jomana Al-Hinti; Anette T. Moller; Karen Ostergaard; Scott J. Sherman; Richard Roxburgh; Barry Snow; John T. Slevin; Franca Cambi; James F. Gusella; Richard H. Myers

doi:10.1002/mds.22186

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

Christopher F. McNicoll, Jeanne C. Latourelle, Marcy E. MacDonald, Mark F. Lew, Oksana Suchowersky, Christine Klein, Lawrence I. Golbe, Margery H. Mark, John H. Growdon, G. Frederick Wooten, Ray L. Watts, Mark Guttman, Brad A. Racette, Joel S. Perlmutter, Anwar Ahmed, Holly A. Shill, Carlos Singer, Marie H. Saint-Hilaire, Tiffany Massood, Karen W. HuskeyAnita L. DeStefano, Tammy Gillis, Jayalakshmi Mysore, Stefano Goldwurm, Gianni Pezzoli, Kenneth B. Baker, Ilia Itin, Irene Litvan, Garth Nicholson, Alastair Corbett, Martha Nance, Edward Drasby, Stuart Isaacson, David J. Burn, Patrick F. Chinnery, Peter P. Pramstaller, Jomana Al-Hinti, Anette T. Moller, Karen Ostergaard, Scott J. Sherman, Richard Roxburgh, Barry Snow, John T. Slevin, Franca Cambi, James F. Gusella, Richard H. Myers

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Abstract

The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.

Original language	English (US)
Pages (from-to)	1596-1601
Number of pages	6
Journal	Movement Disorders
Volume	23
Issue number	11
DOIs	https://doi.org/10.1002/mds.22186
State	Published - Aug 15 2008
Externally published	Yes

Keywords

CAG repeat
Genetics
Huntington's disease
Mitochondria
Onset age
Parkinson's disease

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McNicoll, C. F., Latourelle, J. C., MacDonald, M. E., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R. L., Guttman, M., Racette, B. A., Perlmutter, J. S., Ahmed, A., Shill, H. A., Singer, C., Saint-Hilaire, M. H., Massood, T., ... Myers, R. H. (2008). Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study. Movement Disorders, 23(11), 1596-1601. https://doi.org/10.1002/mds.22186

McNicoll, CF, Latourelle, JC, MacDonald, ME, Lew, MF, Suchowersky, O, Klein, C, Golbe, LI, Mark, MH, Growdon, JH, Wooten, GF, Watts, RL, Guttman, M, Racette, BA, Perlmutter, JS, Ahmed, A, Shill, HA, Singer, C, Saint-Hilaire, MH, Massood, T, Huskey, KW, DeStefano, AL, Gillis, T, Mysore, J, Goldwurm, S, Pezzoli, G, Baker, KB, Itin, I, Litvan, I, Nicholson, G, Corbett, A, Nance, M, Drasby, E, Isaacson, S, Burn, DJ, Chinnery, PF, Pramstaller, PP, Al-Hinti, J, Moller, AT, Ostergaard, K, Sherman, SJ, Roxburgh, R, Snow, B, Slevin, JT, Cambi, F, Gusella, JF & Myers, RH 2008, 'Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study', Movement Disorders, vol. 23, no. 11, pp. 1596-1601. https://doi.org/10.1002/mds.22186

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title = "Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study",

abstract = "The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.",

keywords = "CAG repeat, Genetics, Huntington's disease, Mitochondria, Onset age, Parkinson's disease",

author = "McNicoll, {Christopher F.} and Latourelle, {Jeanne C.} and MacDonald, {Marcy E.} and Lew, {Mark F.} and Oksana Suchowersky and Christine Klein and Golbe, {Lawrence I.} and Mark, {Margery H.} and Growdon, {John H.} and Wooten, {G. Frederick} and Watts, {Ray L.} and Mark Guttman and Racette, {Brad A.} and Perlmutter, {Joel S.} and Anwar Ahmed and Shill, {Holly A.} and Carlos Singer and Saint-Hilaire, {Marie H.} and Tiffany Massood and Huskey, {Karen W.} and DeStefano, {Anita L.} and Tammy Gillis and Jayalakshmi Mysore and Stefano Goldwurm and Gianni Pezzoli and Baker, {Kenneth B.} and Ilia Itin and Irene Litvan and Garth Nicholson and Alastair Corbett and Martha Nance and Edward Drasby and Stuart Isaacson and Burn, {David J.} and Chinnery, {Patrick F.} and Pramstaller, {Peter P.} and Jomana Al-Hinti and Moller, {Anette T.} and Karen Ostergaard and Sherman, {Scott J.} and Richard Roxburgh and Barry Snow and Slevin, {John T.} and Franca Cambi and Gusella, {James F.} and Myers, {Richard H.}",

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AU - Lew, Mark F.

AU - Suchowersky, Oksana

AU - Klein, Christine

AU - Golbe, Lawrence I.

AU - Mark, Margery H.

AU - Growdon, John H.

AU - Wooten, G. Frederick

AU - Watts, Ray L.

AU - Guttman, Mark

AU - Racette, Brad A.

AU - Perlmutter, Joel S.

AU - Ahmed, Anwar

AU - Shill, Holly A.

AU - Singer, Carlos

AU - Saint-Hilaire, Marie H.

AU - Massood, Tiffany

AU - Huskey, Karen W.

AU - DeStefano, Anita L.

AU - Gillis, Tammy

AU - Mysore, Jayalakshmi

AU - Goldwurm, Stefano

AU - Pezzoli, Gianni

AU - Baker, Kenneth B.

AU - Itin, Ilia

AU - Litvan, Irene

AU - Nicholson, Garth

AU - Corbett, Alastair

AU - Nance, Martha

AU - Drasby, Edward

AU - Isaacson, Stuart

AU - Burn, David J.

AU - Chinnery, Patrick F.

AU - Pramstaller, Peter P.

AU - Al-Hinti, Jomana

AU - Moller, Anette T.

AU - Ostergaard, Karen

AU - Sherman, Scott J.

AU - Roxburgh, Richard

AU - Snow, Barry

AU - Slevin, John T.

AU - Cambi, Franca

AU - Gusella, James F.

AU - Myers, Richard H.

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KW - Genetics

KW - Huntington's disease

KW - Mitochondria

KW - Onset age

KW - Parkinson's disease

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ER -

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

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Keywords

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