Chaudhary, Shashi ; Behari, Madhuri ; Dihana, Maninder ; Swaminath, Pazhayannur V. ; Govindappa, Shyla T. ; Jayaram, Sachi ; Goyal, Vinay ; Maitra, Arindam ; Muthane, Uday B. ; Juyal, R. C. ; Thelma, B. K. (2006) Parkin mutations in familial and sporadic Parkinson's disease among Indians Parkinsonism & Related Disorders, 12 (4). pp. 239-245. ISSN 1353-8020
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Official URL: http://www.sciencedirect.com/science/article/pii/S...
Related URL: http://dx.doi.org/10.1016/j.parkreldis.2005.12.004
Abstract
We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD).
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| Keywords: | Parkin Mutations; Parkinson's Disease; Indian Population; Young Onset PD; Late Onset PD; Familial PD |
| ID Code: | 54635 |
| Deposited On: | 12 Aug 2011 06:54 |
| Last Modified: | 12 Aug 2011 06:54 |
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