Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurren... more Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel PRRT2 pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and benign familial infantile seizures (BFIS). After targeted Sanger sequencing did not identify the presence of previously described PRRT2 pathogenic variants, we carried out whole-exome sequencing in the proband and her affected paternal grandfather. This led to the discovery of a novel PRRT2 variant, NM_001256442:exon3:c. C959T/NP_660282.2:p.A320V, altering an evolutionarily conserved alanine at the amino acid position 320 located in the M2 transmembrane region. Sanger sequencing further confirmed the presence of this variant in four affected family members (paternal grandfather, father, brother, and proband) and its absence in two unaffected ones (paternal grandmother and mother). This newly found variant further reinforces the importance of PRRT2 in PKD, BFIS, and possibly other movement disorders. Future functional studies using animal models and human pluripotent stem cell models will provide new insights into the role of PRRT2 and the significance of this variant in regulating neural development and/or function.
In dense metropolitan areas, there are many factors including traffic congestion, building develo... more In dense metropolitan areas, there are many factors including traffic congestion, building development and social organizations that may impact the health of street trees. The focus of this study is to better understand how social, biological and urban design factors affect the mortality rates of newly planted street trees. Prior analyses of street trees planted by the New York City Department of Parks & Recreation between 1999 and 2003 (n=45,094) found 91.3% of those trees were alive after two years and 8.7% were either standing dead or missing completely. Using a site assessment tool, a randomly selected sample of 13,405 of these trees was surveyed throughout the City of New York during the summers of 2006 and 2007. Overall, 74.3% of the sample trees were alive when surveyed and the remainder were either standing dead or missing. Results of our initial analyses reveal that highest mortality rates occur within the first few years after planting, and that land use has a significant effect on street tree mortality. Trees planted in one-and two-family residential areas had the highest survival rates (82.7%), while young street trees planted in industrial areas, open space and vacant land had the lowest rates of street tree survival (60.3%-62.9%). Also significant in predicting street tree success and failure are species type, tree pit enhancements, direct tree care/stewardship, and local traffic conditions. These results are intended to inform urban forest managers in making decisions about the best conditions for planting new street trees.
This paper presents a set of Geographic Information System (GIS) methods for identifying and prio... more This paper presents a set of Geographic Information System (GIS) methods for identifying and prioritizing tree planting sites in urban environments. It uses an analytical approach created by a University of Vermont service-learning class called "GIS Analysis of New York City's Ecology" that was designed to provide research support to the MillionTreesNYC tree planting campaign. These methods prioritize tree planting sites based on need (whether or not trees can help address specific issues in the community) and suitability (biophysical constraints and planting partners' existing programmatic goals). Criteria for suitability and need were based on input from three New York City tree-planting organizations. Customized spatial analysis tools and maps were created to show where each organization may contribute to increasing urban tree canopy (UTC) while also achieving their own programmatic goals. These methods and associated custom tools can help decision-makers optimize urban forestry investments with respect to biophysical and socioeconomic outcomes in a clear and accountable manner. Additionally, the framework described here may be used in other cities, can track spatial characteristics of urban ecosystems over time, and may enable further tool development for collaborative decisionmaking in urban natural resource management.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurren... more Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel PRRT2 pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and benign familial infantile seizures (BFIS). After targeted Sanger sequencing did not identify the presence of previously described PRRT2 pathogenic variants, we carried out whole-exome sequencing in the proband and her affected paternal grandfather. This led to the discovery of a novel PRRT2 variant, NM_001256442:exon3:c. C959T/NP_660282.2:p.A320V, altering an evolutionarily conserved alanine at the amino acid position 320 located in the M2 transmembrane region. Sanger sequencing further confirmed the presence of this variant in four affected family members (paternal grandfather, father, brother, and proband) and its absence in two unaffected ones (paternal grandmother and mother). This newly found variant further reinforces the importance of PRRT2 in PKD, BFIS, and possibly other movement disorders. Future functional studies using animal models and human pluripotent stem cell models will provide new insights into the role of PRRT2 and the significance of this variant in regulating neural development and/or function.
In dense metropolitan areas, there are many factors including traffic congestion, building develo... more In dense metropolitan areas, there are many factors including traffic congestion, building development and social organizations that may impact the health of street trees. The focus of this study is to better understand how social, biological and urban design factors affect the mortality rates of newly planted street trees. Prior analyses of street trees planted by the New York City Department of Parks & Recreation between 1999 and 2003 (n=45,094) found 91.3% of those trees were alive after two years and 8.7% were either standing dead or missing completely. Using a site assessment tool, a randomly selected sample of 13,405 of these trees was surveyed throughout the City of New York during the summers of 2006 and 2007. Overall, 74.3% of the sample trees were alive when surveyed and the remainder were either standing dead or missing. Results of our initial analyses reveal that highest mortality rates occur within the first few years after planting, and that land use has a significant effect on street tree mortality. Trees planted in one-and two-family residential areas had the highest survival rates (82.7%), while young street trees planted in industrial areas, open space and vacant land had the lowest rates of street tree survival (60.3%-62.9%). Also significant in predicting street tree success and failure are species type, tree pit enhancements, direct tree care/stewardship, and local traffic conditions. These results are intended to inform urban forest managers in making decisions about the best conditions for planting new street trees.
This paper presents a set of Geographic Information System (GIS) methods for identifying and prio... more This paper presents a set of Geographic Information System (GIS) methods for identifying and prioritizing tree planting sites in urban environments. It uses an analytical approach created by a University of Vermont service-learning class called "GIS Analysis of New York City's Ecology" that was designed to provide research support to the MillionTreesNYC tree planting campaign. These methods prioritize tree planting sites based on need (whether or not trees can help address specific issues in the community) and suitability (biophysical constraints and planting partners' existing programmatic goals). Criteria for suitability and need were based on input from three New York City tree-planting organizations. Customized spatial analysis tools and maps were created to show where each organization may contribute to increasing urban tree canopy (UTC) while also achieving their own programmatic goals. These methods and associated custom tools can help decision-makers optimize urban forestry investments with respect to biophysical and socioeconomic outcomes in a clear and accountable manner. Additionally, the framework described here may be used in other cities, can track spatial characteristics of urban ecosystems over time, and may enable further tool development for collaborative decisionmaking in urban natural resource management.
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Papers by Jacqueline Lu