News

  • Apr 2020

    Defining research priorities in dystonia

    The NIH brought together leaders in dystonia research for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.

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  • Feb 2020

    Integrating Biological Knowledge Into Case–Control Analysis Through Iterated Conditional Modes/Medians Algorithm

    A new empirical Bayes model for logistic regression is presented in this article. NINDS Repository Parkinson's data submitted to dbGaP were used to highlight the advantages of the new method.

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  • Jan 2020

    Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

    This study, using exome sequencing, identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis (ALS). Researchers also found SPTLC1 mutations in 0.34% of 5,607 ALS cases, and immunohistochemically confirmed the expression of SPTLC1 in spinal cord motor neurons, supporting its role in the pathogenesis of this fatal neurological disease.

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  • Jun 2019

    Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

    This multiethnic, population-based study on 20,949 participants sheds important new light on susceptibility factors of brain infarcts, a marker of covert vascular brain injury commonly observed in older persons.

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  • Dec 2018

    Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, longread PCR assay

    This study, using a novel bimodal PCR assay capable of amplifying nearly 100% of GC-rich sequences, provides comprehensive genotyping of the C9orf72 repeat region for over 2000 ALS samples collected in the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center.

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  • Jul 2018

    Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS

    This study, published in bioRxiv, developed two collapsing strategies. The new analyses not only pinpoint risk regions in known genes but also highlight candidate genes as well.

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  • May 2018

    Identification of novel circulatory microRNA signatures linked to patients with ischemic stroke

    MiRNAs identified in this study could potentially be used as disease biomarkers and for the development of novel therapeutic approaches.

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  • Apr 2018

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    This study, using a large-scale genome-wide association framework and exome sequencing, identified KIF5A as a novel gene associated with ALS.

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  • Mar 2018

    Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

    The identification of targets that effectively modulate vesicle trafficking in neurons, glia and myeloid cells could hold tremendous therapeutic value for C9ORF72 ALS and FTD and other CNS disorders.

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  • Aug 2017

    TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    This study, published in the journal Neuron, identifies a rare mutation found in ALS/FTD cases. These findings reinforce the importance of disturbed RNA metabolism in ALS/FTD and place altered membrane-less organelle dynamics at the center of ALS/FTD pathogenesis.

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