Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study

被引：22

作者：

Caccappolo, Elise ^{[1
,2
]}

Alcalay, Roy N. ^{[1
]}

Mejia-Santana, Helen ^{[1
]}

Tang, Ming-X. ^{[1
,2
]}

Rakitin, Brian ^{[1
,2
]}

Rosado, Llency ^{[1
]}

Louis, Elan D. ^{[1
,2
,3
,4
]}

Comella, Cynthia L. ^{[5
]}

Colcher, Amy ^{[6
]}

Jennings, Danna ^{[7
]}

Nance, Martha A. ^{[8
]}

Bressman, Susan ^{[9
,10
]}

Scott, William K. ^{[11
,12
]}

Tanner, Caroline M. ^{[13
]}

Mickel, Susan F. ^{[15
]}

Andrews, Howard F. ^{[14
]}

Waters, Cheryl ^{[1
]}

Fahn, Stanley ^{[1
]}

Cote, Lucien J. ^{[3
]}

Frucht, Steven ^{[1
]}

Ford, Blair ^{[1
]}

Rezak, Michael ^{[16
,17
]}

Novak, Kevin ^{[16
,17
]}

Friedman, Joseph H. ^{[18
,19
]}

Pfeiffer, Ronald F. ^{[20
]}

Marsh, Laura ^{[21
,22
,23
]}

Hiner, Brad ^{[24
]}

Siderowf, Andrew D. ^{[25
]}

Ross, Barbara M. ^{[2
]}

Verbitsky, Miguel ^{[2
]}

Kisselev, Sergey ^{[2
]}

Ottman, Ruth ^{[1
,3
,4
,26
]}

Clark, Lorraine N. ^{[2
,27
]}

Marder, Karen S. ^{[1
,2
,3
,28
]}

机构：

[1] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA

[2] Columbia Univ, Coll Phys & Surg, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY USA

[3] Columbia Univ, Gertrude H Sergievsky Ctr, Coll Phys & Surg, New York, NY 10027 USA

[4] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA

[5] Movement Disorder Sect, Dept Neurol, Chicago, IL USA

[6] Penn Hosp, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19107 USA

[7] Inst Neurodegenerat Disorders, New Haven, CT USA

[8] Pk Nicollet Clin, Struthers Parkinsons Ctr, Golden Valley, MN USA

[9] Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, New York, NY 10003 USA

[10] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA

[11] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

[12] Univ Miami, Miller Sch Med, John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA

[13] Parkinsons Inst, Sunnyvale, CA USA

[14] New York State Psychiat Inst & Hosp, Data Coordinating Ctr, New York, NY 10032 USA

[15] Marshfield Clin Fdn Med Res & Educ, Dept Neurol, Marshfield, WI USA

[16] N Shore Univ Hlth Syst, Dept Neurol, Evanston, IL USA

[17] Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA

[18] Parkinsons Dis & Movement Disorders Ctr NeuroHlth, Warwick, RI USA

[19] Brown Univ, Warren Alpert Sch Med, Dept Clin Neurosci, Providence, RI 02912 USA

[20] Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Coll Med, Memphis, TN 38163 USA

[21] Johns Hopkins Univ, Sch Med, Morris K Udall Parkinsons Dis Res Ctr Excellence, Baltimore, MD USA

[22] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA

[23] Johns Hopkins Univ, Sch Med, Dept Neurol & Neurol Sci, Baltimore, MD USA

[24] Med Coll Wisconsin, Milwaukee, WI 53226 USA

[25] Univ Penn Hlth Syst, Dept Neurol, Philadelphia, PA USA

[26] New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA

[27] Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY USA

[28] Columbia Univ, Med Ctr, Dept Psychiat, New York, NY USA

来源：

JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY | 2011年 / 17卷 / 01期

关键词：

Parkinson's disease; Genetics; Neuropsychological assessment; Genotype; PARK2; Parkin mutation; MINI-MENTAL-STATE; EARLY-ONSET; GENE; IMPAIRMENTS;

D O I：

10.1017/S1355617710001190

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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)

引用

页码：91 / 100

页数：10

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