Search results for: Hampton L. Leonard

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article

Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease

Kensuke Daida, Manabu Funayama, Kimberley J. Billingsley, Laksh Malik, more

Movement Disorders > 38 > 12 > 2249 - 2257

Background Parkin RBR E3 ubiquitin‐protein ligase (PRKN) mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E, which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there...

article

Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk

Julie Lake, Xylena Reed, Rebekah G. Langston, Mike A. Nalls, more

Movement Disorders > 37 > 1 > 95 - 105

Background The leucine‐rich repeat kinase 2 (LRRK2) gene harbors both rare highly damaging missense variants (eg, p.G2019S) and common noncoding variants (eg, rs76904798) with lower effect sizes that are associated with Parkinson's disease (PD) risk. Objectives This study aimed to investigate in a large meta‐analysis whether the LRRK2 Genome‐Wide Association Study (GWAS) signal represented by rs76904798...

article

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

Hirotaka Iwaki, Hampton L. Leonard, Mary B. Makarious, Matt Bookman, more

Movement Disorders > 36 > 8 > 1795 - 1804

Background Whole‐genome sequencing data are available from several large studies across a variety of diseases and traits. However, massive storage and computation resources are required to use these data, and to achieve sufficient power for discoveries, harmonization of multiple cohorts is critical. Objectives The Accelerating Medicines Partnership Parkinson's Disease program has developed a research...

article

FGL1 as a modulator of plasma D‐dimer levels: Exome‐wide marker analysis of plasma tPA, PAI‐1, and D‐dimer

Florian Thibord, Ci Song, Jack Pattee, Benjamin A.T. Rodriguez, more

Journal of Thrombosis and Haemostasis > 19 > 8 > 2019 - 2028

Background Use of targeted exome‐arrays with common, rare variants and functionally enriched variation has led to discovery of new genes contributing to population variation in risk factors. Plasminogen activator‐inhibitor 1 (PAI‐1), tissue plasminogen activator (tPA), and the plasma product D‐dimer are important components of the fibrinolytic system. There have been few large‐scale genome‐wide or...

article

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Cornelis Blauwendraat, Hirotaka Iwaki, Mary B. Makarious, Sara Bandres‐Ciga, more

Annals of Neurology > 90 > 1 > 35 - 42

Objective Parkinson's disease (PD) is a complex neurodegenerative disorder. Men are on average ~ 1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex‐specific manner. Methods In an effort...

article

Differences in the Presentation and Progression of Parkinson's Disease by Sex

Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Mary B. Makarious, more

Movement Disorders > 36 > 1 > 106 - 117

Background Previous studies reported various symptoms of Parkinson's disease (PD) associated with sex. Some were conflicting or confirmed in only one study. Objectives We examined sex associations to PD phenotypes cross‐sectionally and longitudinally in large‐scale data. Methods We tested 40 clinical phenotypes, using longitudinal, clinic‐based patient cohorts, consisting of 5946 patients, with...

article

Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

Hirotaka Iwaki, Cornelis Blauwendraat, Mary B. Makarious, Sara Bandrés‐Ciga, more

Movement Disorders > 35 > 5 > 774 - 780

Background Although the leucine‐rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified. Objectives To evaluate whether a cumulative genetic risk identified in the recent genome‐wide study is associated with penetrance of PD among p.G2019S mutation carriers...

article

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Jonggeol J. Kim, more

Movement Disorders > 34 > 12 > 1839 - 1850

Background Several reports have identified different patterns of Parkinson's disease progression in individuals carrying missense variants in GBA or LRRK2 genes. The overall contribution of genetic factors to the severity and progression of Parkinson's disease, however, has not been well studied. Objectives To test the association between genetic variants and the clinical features of Parkinson's...

article

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Sara Bandres‐Ciga, Sarah Ahmed, Marya S. Sabir, Cornelis Blauwendraat, more

Movement Disorders > 34 > 12 > 1851 - 1863

Background The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. Objectives To perform the largest PD genome‐wide association study restricted to a single country. Methods We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish...

article

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

Sara Bandres‐Ciga, Sara Saez‐Atienzar, Luis Bonet‐Ponce, Kimberley Billingsley, more

Movement Disorders > 34 > 4 > 460 - 468

Background PD is a complex polygenic disorder. In recent years, several genes from the endocytic membrane‐trafficking pathway have been suggested to contribute to disease etiology. However, a systematic analysis of pathway‐specific genetic risk factors is yet to be performed. Objectives To comprehensively study the role of the endocytic membrane‐trafficking pathway in the risk of PD. Methods...

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PARKINSON'S DISEASE (7)
GENETICS (3)
POLYGENIC RISK SCORE (3)
LRRK2 (2)
AGE AT ONSET (1)
APOLIPOPROTEIN E (1)
ASSOCIATION (1)
CLINICAL (1)
COMPUTATIONAL BIOLOGY (1)
ENDOCYTOSIS (1)
EXOME (1)
FIBRINOGEN (1)
FIBRINOLYSIS (1)
G2019S (1)
GBA (1)
GENETIC ASSOCIATION STUDY (1)
GENETIC RISK (1)
GENOMEWIDE ASSOCIATION STUDY (1)
HERITABILITY (1)
INVERSION (1)
LONG‐READ SEQUENCING (1)
OPEN SCIENCE (1)
PARK2 (1)
PARKINSON'S DISEASE; GENDER; SEX; DYSKINESIAS; COGNITIVE IMPAIRMENT; ACTIVITIES OF DAILY LIVINGS (1)
RISK HAPLOTYPE (1)
SPANISH POPULATION (1)
STRUCTURAL VARIANT (1)
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Movement Disorders (8)
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Search results for: Hampton L. Leonard

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