Journal
NEUROBIOLOGY OF AGING
Volume 76, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2018.11.007
Keywords
Neurodegeneration; NeuroChip; Genotype-phenotype; Brain bank
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Funding
- Intramural Research Program of the National Institutes of Health (National Institute of Neurological Disorders and Stroke, United States, National Institute on Aging) [ZIA-NS003154, Z01-AG000949]
- National Institutes of Health, United States [U19-AG03365, P50 NS38377, P50AG005146]
- Johns Hopkins Morris K. Udall Center of Excellence for Parkinson's Disease Research (NIH) [P50 NS38377]
- NIGMS by trans-NIH big data to Knowledge (BD2K) initiative [1U54GM114838]
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [ZIANS003154] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [ZIAAG000185] Funding Source: NIH RePORTER
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Molecular genetic research provides unprecedented opportunities to examine genotype-phenotype correlations underlying complex syndromes. To investigate pathogenic mutations and genotype-phenotype relationships in diverse neurodegenerative conditions, we performed a rare variant analysis of damaging mutations in autopsy-confirmed neurodegenerative cases from the Johns Hopkins Brain Resource Center (n = 1243 patients). We used NeuroChip genotyping and C9orf72 hexanucleotide repeat analysis to rapidly screen our cohort for disease-causing mutations. In total, we identified 42 individuals who carried a pathogenic mutation in LRRK2, GBA, APP, PSEN1, MAPT, GRN, C9orf72, SETX, SPAST, or CSF1R, and we provide a comprehensive description of the diverse clinicopathological features of these well-characterized cases. Our study highlights the utility of high-throughput genetic screening arrays to establish a molecular diagnosis in individuals with complex neurodegenerative syndromes, to broaden disease phenotypes and to provide insights into unexpected disease associations. Published by Elsevier Inc.
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