Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease | Zendy

Pankratz Nathan | Zendy; Pauciulo Michael W. | Zendy; Elsaesser Veronika E. | Zendy; Marek Diane K. | Zendy; Halter Cheryl A. | Zendy; Rudolph Alice | Zendy; Shults Clifford W. | Zendy; Foroud Tatiana | Zendy; Nichols William C. | Zendy

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Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

Author(s) -

Pankratz Nathan,

Pauciulo Michael W.,

Elsaesser Veronika E.,

Marek Diane K.,

Halter Cheryl A.,

Rudolph Alice,

Shults Clifford W.,

Foroud Tatiana,

Nichols William C.

Publication year - 2006

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21162

Subject(s) - lrrk2 , pedigree chart , mutation , parkinson's disease , genetics , disease , medicine , essential tremor , biology , psychiatry , gene

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. © 2006 Movement Disorder Society

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