A genetic cluster of early onset Parkinson's disease in a Colombian population.
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A genetic cluster of early onset Parkinson's disease in a Colombian population. / Pineda-Trujillo, Nicolas; Apergi, Maria; Moreno, Sonia; Arias, William; Lesage, Suzanne; Franco, Alejandro; Sepulveda-Falla, Diego; Cano, David; Buriticá, Omar; Pineda, David; Uribe, Carlos Santiago; Yebenes, de; Garcia, Justo; Lees, Andrew J; Brice, Alexis; Bedoya, Gabriel; Lopera, Francisco; Ruiz-Linares, Andres.
In: AM J MED GENET B, Vol. 141, No. 8, 8, 2006, p. 885-889.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - A genetic cluster of early onset Parkinson's disease in a Colombian population.
AU - Pineda-Trujillo, Nicolas
AU - Apergi, Maria
AU - Moreno, Sonia
AU - Arias, William
AU - Lesage, Suzanne
AU - Franco, Alejandro
AU - Sepulveda-Falla, Diego
AU - Cano, David
AU - Buriticá, Omar
AU - Pineda, David
AU - Uribe, Carlos Santiago
AU - Yebenes, de
AU - Garcia, Justo
AU - Lees, Andrew J
AU - Brice, Alexis
AU - Bedoya, Gabriel
AU - Lopera, Francisco
AU - Ruiz-Linares, Andres
PY - 2006
Y1 - 2006
N2 - We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago).
AB - We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago).
M3 - SCORING: Zeitschriftenaufsatz
VL - 141
SP - 885
EP - 889
JO - AM J MED GENET B
JF - AM J MED GENET B
SN - 1552-4841
IS - 8
M1 - 8
ER -
