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PINK1 mutations in sporadic early-onset Parkinson's disease
Movement disorders, 2006-06, Vol.21 (6), p.789-793
Tan, Eng-King
Yew, Kenneth
Chua, Eva
Puvan, K.
Shen, Hui
Lee, Esther
Puong, Kim-Yoong
Zhao, Yi
Pavanni, Ratnagopal
Wong, Meng-Cheong
Jamora, Dominic
de Silva, Deidre
Moe, Kyaw-Thu
Woon, Fung-Peng
Yuen, Yih
Tan, Louis
2006
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Tan, Eng-King
Yew, Kenneth
Chua, Eva
Puvan, K.
Shen, Hui
Lee, Esther
Puong, Kim-Yoong
Zhao, Yi
Pavanni, Ratnagopal
Wong, Meng-Cheong
Jamora, Dominic
de Silva, Deidre
Moe, Kyaw-Thu
Woon, Fung-Peng
Yuen, Yih
Tan, Louis
Titel
PINK1 mutations in sporadic early-onset Parkinson's disease
Ist Teil von
Movement disorders, 2006-06, Vol.21 (6), p.789-793
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2006
Quelle
MEDLINE
Beschreibungen/Notizen
Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.20810
Titel-ID: cdi_proquest_miscellaneous_68068843
Format
–
Schlagworte
Adult
,
Age of Onset
,
Asian Continental Ancestry Group - genetics
,
Base Sequence
,
DNA Primers
,
Ethnic Groups
,
Genetic Carrier Screening
,
Homozygote
,
Humans
,
Middle Aged
,
Mutation
,
Parkinson Disease - genetics
,
Parkinson's disease
,
PINK1
,
Protein Kinases - genetics
,
restless legs syndrome
,
Singapore
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