Jeannie Soto‐Valencia

Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson’s Disease

Marta San Luciano, Cuiling Wang, Qiping Yu, Sarah Boschung et autres

INTRODUCTION: Pre-clinical markers of Parkinson's Disease (PD) are needed, and to be relevant in pre-clinical disease, they should be quantifiably abnormal in early disease as well. Handwriting is impaired early in PD and can be evaluated using computerized analysis of drawn spirals, …

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Neuropsychiatric characteristics of GBA-associated Parkinson disease

Matthew Swan, Nancy Doan, Robert Ortega, Matthew J. Barrett et autres

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Age-specific penetrance ofLRRK2G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Karen Marder, Yuanjia Wang, Roy N. Alcalay, Helen Mejia‐Santana et autres

OBJECTIVE: Estimates of the penetrance of LRRK2 G2019S vary widely (24%-100%), reflective of differences in ascertainment, age, sex, ethnic group, and genetic and environmental modifiers. METHODS: The kin-cohort method was used to predict penetrance in 2,270 relatives of 474 Ashkenazi Jewish (AJ) …

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Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers

Rick C. Helmich, Avner Thaler, Bart F.L. van Nuenen, Tanya Gurevich et autres

OBJECTIVE: We investigated system-level corticostriatal changes in a human model of premotor Parkinson disease (PD), i.e., healthy carriers of the G2019S LRRK2 mutation that is associated with a markedly increased, age-dependent risk of developing PD. METHODS: We compared 37 asymptomatic LRRK2 G2019S …

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Neuropsychiatric Features of GBA-Associated Parkinson Disease (P2.024)

Matthew Swan, Robert Ortega, Matthew J. Barrett, Jeannie Soto‐Valencia et autres

OBJECTIVE: To explore neuropsychiatric symptomatology in Parkinson disease (PD) associated with monoallelic glucocerebrosidase mutations. BACKGROUND: Mutations in the glucocerebrosidase gene, GBA1, are associated with Parkinson disease and dementia with Lewy bodies. Depression and anxiety have been reported as prominent features in PD …

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Glucocerebrosidase Enzyme Activity in GBA1 Mutation Parkinson Disease (P4.042)

Robert Ortega, Paola Torres, Sarah Boschung, Matthew Swan et autres

OBJECTIVE: To determine whether peripheral glucocerebrosidase (GCase) enzyme activity (activity) is associated with Parkinson Disease (PD) and is a potential marker for glucocerebrosidase (GBA1) mutation PD. BACKGROUND: Monoallelic and biallelic GBA1 mutations are associated with PD. While activity is consistently low in …

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Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations

Roy N. Alcalay, Anat Mirelman, Rachel Saunders‐Pullman, Ming‐X Tang et autres

The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish …

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Lower cognitive performance in healthy G2019S LRRK2 mutation carriers

Avner Thaler, Anat Mirelman, Tanya Gurevich, Ely S. Simon et autres

OBJECTIVE: To assess cognitive abilities of healthy first-degree relatives of Ashkenazi patients with Parkinson disease (PD), carriers of the G2019S mutation in the LRRK2 gene. METHODS: In this observational study, 60 consecutive healthy first-degree relatives (aged 50.9 ± 6.2 years; 48% male; …

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Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites

Rachel Saunders‐Pullman, Deborah Raymond, Geetha Senthil, Patricia Kramer et autres

The DYT6 gene for primary torsion dystonia (PTD) was mapped to chromosome 8p21-q22 in two Amish-Mennonite families who shared a haplotype of marker alleles across a 40 cM linked region. The objective of this study was to narrow the DYT6 region, clinically …

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LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

Laurie J. Ozelius, Geetha Senthil, Rachel Saunders‐Pullman, Erin Ohmann et autres

To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified.1 Recen...

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A new screening tool for cervical dystonia

Rachel Saunders‐Pullman, Jeannie Soto‐Valencia, C. Costan-Toth, Janet Shriberg et autres

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 …

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