Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease
Identifieur interne : 001477 ( PascalFrancis/Curation ); précédent : 001476; suivant : 001478Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease
Auteurs : Nathan Pankratz [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Veronika E. Elsaesser [États-Unis] ; Diane K. Marek [États-Unis] ; Cheryl A. Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; Tatiana Foroud [États-Unis] ; William C. Nichols [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.
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<front><div type="abstract" xml:lang="en">A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.</div>
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</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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