C. Costan-Toth

Yeshiva University

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Rachel Saunders‐Pullman

Mount Sinai Beth Israel

Michel Panisset

Université de Montréal

Vittorio Calabrese

University of Catania

Joanne Wojcieszek

Indiana University – Purdue University Indianapolis

Kelvin L. Chou

University of Michigan–Ann Arbor

P.M. Conneally

Indiana University Bloomington

D. Jennings

Institute for Neurodegenerative Disorders

Kapil D. Sethi

St Vincent's Health

H. Poiffaut

Louisiana State University Health Sciences Center New Orleans

David K. Simon

Beth Israel Deaconess Medical Center

Cooperative Institutions

Massachusetts General Hospital

University of Rochester

Harvard University

Indiana University – Purdue University Indianapolis

University of Iowa

Columbia University

University of British Columbia

University of California, San Diego

University Medical Center

University of Toronto

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

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

Movement Disorders (2006)

Nathan Pankratz Michael W. Pauciulo Veronika E. Elsaesser Diane K. Marek C. A. Halter

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. © 2006 Movement Disorder Society

LRRK2

Pedigree chart

10.1002/mds.21162

Cite

Citations (28)

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

Movement Disorders (2006)

William C. Nichols Diane K. Marek Michael W. Pauciulo Nathan Pankratz Cheryl Halter

Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q). Although this substitution was not found in a large cohort of controls, its pathogenicity could not be verified. We have now genotyped the R1514Q substitution in a sample of 954 PD patients from 429 multiplex PD families. This substitution was identified in 1.8% of the PD patients; however, the majority of the PD sibships segregating this substitution were discordant for this putative mutation. In addition, the R1514Q substitution was detected in 1.4% of neurologically evaluated, control individuals. These data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation. We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing.

LRRK2

Substitution (logic)

10.1002/mds.21233

Cite

Citations (8)

A new screening tool for cervical dystonia

Neurology (2005)

Rachel Saunders‐Pullman Jeannie Soto‐Valencia C. Costan-Toth Janet Shriberg Deborah Raymond

Background: Family studies of dystonia may be limited in part by small family size and incomplete ascertainment of dystonia in geographically dispersed families. Further, prevalence estimates of dystonia are believed to be underestimates, as most studies are clinic-based and many individuals do not present to a physician or are misdiagnosed. As a low-cost highly sensitive screening tool is needed to improve case detection for genetic and epidemiologic studies, the authors developed the Beth Israel Dystonia Screen (BIDS), a computer-assisted telephone interview. Objective: To evaluate the validity and utility of a computer-assisted telephone interview in screening for cervical dystonia. Methods: The BIDS was administered and videotaped neurologic examinations performed on 193 individuals from 16 families with cervical and cranial dystonia. With use of a final rating of definite dystonia, as determined by video review of a systematic neurologic evaluation, as the gold standard, the predictive value of a subset of questions from the BIDS was assessed. Results: A positive response to at least two of five screening questions had a sensitivity for cervical dystonia of 100% and a specificity of 92%. With use of a positive response to three or more questions, definite dystonia was determined with 81% sensitivity and 97% specificity. Conclusions: The Beth Israel Dystonia Screen (BIDS) identifies cervical dystonia with excellent sensitivity and specificity in a family-based sample. The authors recommend the BIDS for family studies, but cross-validation in a population sample is advisable before applying this method to epidemiologic studies.

Cervical dystonia

Gold standard (test)

Telephone interview

10.1212/01.wnl.0000166030.05756.9f

Cite

Citations (19)