Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study

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

doi:10.1017/S1355617710001190

Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study

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

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

Abstract

The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 91-100)

Original language	English (US)
Pages (from-to)	91-100
Number of pages	10
Journal	Journal of the International Neuropsychological Society
Volume	17
Issue number	1
DOIs	https://doi.org/10.1017/S1355617710001190
State	Published - Jan 2011
Externally published	Yes

Keywords

Genetics
Genotype
Neuropsychological assessment
PARK2
Parkin mutation
Parkinson's disease

ASJC Scopus subject areas

General Neuroscience
Clinical Psychology
Clinical Neurology
Psychiatry and Mental health

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10.1017/S1355617710001190

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Caccappolo, E., Alcalay, R. N., Mejia-Santana, H., Tang, M. X., Rakitin, B., Rosado, L., Louis, E. D., Comella, C. L., Colcher, A., Jennings, D., Nance, M. A., Bressman, S., Scott, W. K., Tanner, C. M., Mickel, S. F., Andrews, H. F., Waters, C., Fahn, S., Cote, L. J., ... Marder, K. S. (2011). Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study. Journal of the International Neuropsychological Society, 17(1), 91-100. https://doi.org/10.1017/S1355617710001190

Caccappolo, E, Alcalay, RN, Mejia-Santana, H, Tang, MX, Rakitin, B, Rosado, L, Louis, ED, Comella, CL, Colcher, A, Jennings, D, Nance, MA, Bressman, S, Scott, WK, Tanner, CM, Mickel, SF, Andrews, HF, Waters, C, Fahn, S, Cote, LJ, Frucht, S, Ford, B, Rezak, M, Novak, K, Friedman, JH, Pfeiffer, RF, Marsh, L, Hiner, B, Siderowf, AD, Ross, BM, Verbitsky, M, Kisselev, S, Ottman, R, Clark, LN & Marder, KS 2011, 'Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study', Journal of the International Neuropsychological Society, vol. 17, no. 1, pp. 91-100. https://doi.org/10.1017/S1355617710001190

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title = "Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study",

abstract = "The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 91-100)",

keywords = "Genetics, Genotype, Neuropsychological assessment, PARK2, Parkin mutation, Parkinson's disease",

author = "Elise Caccappolo and Alcalay, {Roy N.} and Helen Mejia-Santana and Tang, {Ming X.} and Brian Rakitin and Llency Rosado and Louis, {Elan D.} and Comella, {Cynthia L.} and Amy Colcher 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 Cote, {Lucien J.} and Steven Frucht and Blair Ford and Michael Rezak and Kevin Novak and Friedman, {Joseph H.} and Pfeiffer, {Ronald F.} and Laura Marsh and Brad Hiner and Siderowf, {Andrew D.} and Ross, {Barbara M.} and Miguel Verbitsky and Sergey Kisselev and Ruth Ottman and Clark, {Lorraine N.} and Marder, {Karen S.}",

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AU - Caccappolo, Elise

AU - Alcalay, Roy N.

AU - Mejia-Santana, Helen

AU - Tang, Ming X.

AU - Rakitin, Brian

AU - Rosado, Llency

AU - Louis, Elan D.

AU - Comella, Cynthia L.

AU - Colcher, Amy

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 - Cote, Lucien J.

AU - Frucht, Steven

AU - Ford, Blair

AU - Rezak, Michael

AU - Novak, Kevin

AU - Friedman, Joseph H.

AU - Pfeiffer, Ronald F.

AU - Marsh, Laura

AU - Hiner, Brad

AU - Siderowf, Andrew D.

AU - Ross, Barbara M.

AU - Verbitsky, Miguel

AU - Kisselev, Sergey

AU - Ottman, Ruth

AU - Clark, Lorraine N.

AU - Marder, Karen S.

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N2 - The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 91-100)

AB - The cognitive profile of early onset Parkinson's disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 91-100)

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KW - Genotype

KW - Neuropsychological assessment

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KW - Parkin mutation

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Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study

Abstract

Keywords

ASJC Scopus subject areas

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