Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study

Karen S. Marder; Ming X. Tang; Helen Mejia-Santana; Llency Rosado; Elan D. Louis; Cynthia L. Comella; Amy Colcher; Andrew D. Siderowf; Danna Jennings; Martha A. Nance; Susan Bressman; William K. Scott; Caroline M. Tanner; Susan F. Mickel; Howard F. Andrews; Cheryl Waters; Stanley Fahn; Barbara M. Ross; Lucien J. Cote; Steven Frucht; Blair Ford; Roy N. Alcalay; Michael Rezak; Kevin Novak; Joseph H. Friedman; Ronald F. Pfeiffer; Laura Marsh; Brad Hiner; Gregory D. Neils; Miguel Verbitsky; Sergey Kisselev; Elise Caccappolo; Ruth Ottman; Lorraine N. Clark

doi:10.1001/archneurol.2010.95

Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study

Karen S. Marder, Ming X. Tang, Helen Mejia-Santana, Llency Rosado, Elan D. Louis, Cynthia L. Comella, Amy Colcher, Andrew D. Siderowf, Danna Jennings, Martha A. Nance, Susan Bressman, William K. Scott, Caroline M. Tanner, Susan F. Mickel, Howard F. Andrews, Cheryl Waters, Stanley Fahn, Barbara M. Ross, Lucien J. Cote, Steven FruchtBlair Ford, Roy N. Alcalay, Michael Rezak, Kevin Novak, Joseph H. Friedman, Ronald F. Pfeiffer, Laura Marsh, Brad Hiner, Gregory D. Neils, Miguel Verbitsky, Sergey Kisselev, Elise Caccappolo, Ruth Ottman, Lorraine N. Clark

School of Medicine

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63 Scopus citations

Abstract

Background: Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date. Objective: To determine risk factors associated with carrying parkin mutations. Design: Cross-sectional observational study. Setting: Thirteen movement disorders centers. Participants: A total of 956 patients with early-onset PD, defined as age at onset younger than 51 years. Main Outcome Measures: Presence of heterozygous, homozygous, or compound heterozygous parkin mutations. Results: Using a previously validated interview, 14.7% of patients reported a family history of PD in a first-degree relative. Sixty-four patients (6.7%) had parkin mutations (3.9% heterozygous, 0.6% homozygous, and 2.2% compound heterozygous). Copy number variation was present in 52.3% of mutation carriers (31.6% of heterozygous, 83.3% of homozygous, and 81.0% of compound heterozygous). Deletions in exons 3 and 4 and 255delA were common among Hispanics (specifically Puerto Ricans). Younger age at onset (

Original language	English (US)
Pages (from-to)	731-738
Number of pages	8
Journal	Archives of Neurology
Volume	67
Issue number	6
DOIs	https://doi.org/10.1001/archneurol.2010.95
State	Published - Jun 2010

ASJC Scopus subject areas

Clinical Neurology

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Marder, K. S., Tang, M. X., Mejia-Santana, H., Rosado, L., Louis, E. D., Comella, C. L., Colcher, A., Siderowf, A. D., Jennings, D., Nance, M. A., Bressman, S., Scott, W. K., Tanner, C. M., Mickel, S. F., Andrews, H. F., Waters, C., Fahn, S., Ross, B. M., Cote, L. J., ... Clark, L. N. (2010). Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study. Archives of Neurology, 67(6), 731-738. https://doi.org/10.1001/archneurol.2010.95

Marder, KS, Tang, MX, Mejia-Santana, H, Rosado, L, Louis, ED, Comella, CL, Colcher, A, Siderowf, AD, Jennings, D, Nance, MA, Bressman, S, Scott, WK, Tanner, CM, Mickel, SF, Andrews, HF, Waters, C, Fahn, S, Ross, BM, Cote, LJ, Frucht, S, Ford, B, Alcalay, RN, Rezak, M, Novak, K, Friedman, JH, Pfeiffer, RF, Marsh, L, Hiner, B, Neils, GD, Verbitsky, M, Kisselev, S, Caccappolo, E, Ottman, R & Clark, LN 2010, 'Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study', Archives of Neurology, vol. 67, no. 6, pp. 731-738. https://doi.org/10.1001/archneurol.2010.95

@article{cf68edaf34b64f50b8f614c05de64240,

title = "Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study",

abstract = "Background: Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date. Objective: To determine risk factors associated with carrying parkin mutations. Design: Cross-sectional observational study. Setting: Thirteen movement disorders centers. Participants: A total of 956 patients with early-onset PD, defined as age at onset younger than 51 years. Main Outcome Measures: Presence of heterozygous, homozygous, or compound heterozygous parkin mutations. Results: Using a previously validated interview, 14.7% of patients reported a family history of PD in a first-degree relative. Sixty-four patients (6.7%) had parkin mutations (3.9% heterozygous, 0.6% homozygous, and 2.2% compound heterozygous). Copy number variation was present in 52.3% of mutation carriers (31.6% of heterozygous, 83.3% of homozygous, and 81.0% of compound heterozygous). Deletions in exons 3 and 4 and 255delA were common among Hispanics (specifically Puerto Ricans). Younger age at onset (",

author = "Marder, {Karen S.} and Tang, {Ming X.} and Helen Mejia-Santana and Llency Rosado and Louis, {Elan D.} and Comella, {Cynthia L.} and Amy Colcher and Siderowf, {Andrew D.} and Danna Jennings and Nance, {Martha A.} and Susan Bressman and Scott, {William K.} and Tanner, {Caroline M.} and Mickel, {Susan F.} and Andrews, {Howard F.} and Cheryl Waters and Stanley Fahn and Ross, {Barbara M.} and Cote, {Lucien J.} and Steven Frucht and Blair Ford and Alcalay, {Roy N.} and Michael Rezak and Kevin Novak and Friedman, {Joseph H.} and Pfeiffer, {Ronald F.} and Laura Marsh and Brad Hiner and Neils, {Gregory D.} and Miguel Verbitsky and Sergey Kisselev and Elise Caccappolo and Ruth Ottman and Clark, {Lorraine N.}",

year = "2010",

month = jun,

doi = "10.1001/archneurol.2010.95",

language = "English (US)",

volume = "67",

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T1 - Predictors of Parkin mutations in early-onset Parkinson disease

T2 - The consortium on risk for early-onset Parkinson disease study

AU - Marder, Karen S.

AU - Tang, Ming X.

AU - Mejia-Santana, Helen

AU - Rosado, Llency

AU - Louis, Elan D.

AU - Comella, Cynthia L.

AU - Colcher, Amy

AU - Siderowf, Andrew D.

AU - Jennings, Danna

AU - Nance, Martha A.

AU - Bressman, Susan

AU - Scott, William K.

AU - Tanner, Caroline M.

AU - Mickel, Susan F.

AU - Andrews, Howard F.

AU - Waters, Cheryl

AU - Fahn, Stanley

AU - Ross, Barbara M.

AU - Cote, Lucien J.

AU - Frucht, Steven

AU - Ford, Blair

AU - Alcalay, Roy N.

AU - Rezak, Michael

AU - Novak, Kevin

AU - Friedman, Joseph H.

AU - Pfeiffer, Ronald F.

AU - Marsh, Laura

AU - Hiner, Brad

AU - Neils, Gregory D.

AU - Verbitsky, Miguel

AU - Kisselev, Sergey

AU - Caccappolo, Elise

AU - Ottman, Ruth

AU - Clark, Lorraine N.

PY - 2010/6

Y1 - 2010/6

N2 - Background: Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date. Objective: To determine risk factors associated with carrying parkin mutations. Design: Cross-sectional observational study. Setting: Thirteen movement disorders centers. Participants: A total of 956 patients with early-onset PD, defined as age at onset younger than 51 years. Main Outcome Measures: Presence of heterozygous, homozygous, or compound heterozygous parkin mutations. Results: Using a previously validated interview, 14.7% of patients reported a family history of PD in a first-degree relative. Sixty-four patients (6.7%) had parkin mutations (3.9% heterozygous, 0.6% homozygous, and 2.2% compound heterozygous). Copy number variation was present in 52.3% of mutation carriers (31.6% of heterozygous, 83.3% of homozygous, and 81.0% of compound heterozygous). Deletions in exons 3 and 4 and 255delA were common among Hispanics (specifically Puerto Ricans). Younger age at onset (

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Predictors of Parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study

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