Experts and Doctors on amyotrophic lateral sclerosis in Bethesda, Maryland, United States


Locale: Bethesda, Maryland, United States
Topic: amyotrophic lateral sclerosis

Top Publications

  1. Johnson J, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin V, Trojanowski J, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010;68:857-64 pubmed publisher
  2. Majounie E, Renton A, Mok K, Dopper E, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11:323-30 pubmed publisher
    ..Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases. Full funding sources listed at end of paper (see Acknowledgments). ..
  3. Gendron T, Daughrity L, Heckman M, Diehl N, Wuu J, Miller T, et al. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol. 2017;82:139-146 pubmed publisher
    ..These data support the use of CSF pNFH as a prognostic biomarker for clinical trials, which will increase the likelihood of successfully developing a treatment for c9ALS. Ann Neurol 2017;82:139-146. ..
  4. Lin M, Cheng X, Tammineni P, Xie Y, Zhou B, Cai Q, et al. Releasing Syntaphilin Removes Stressed Mitochondria from Axons Independent of Mitophagy under Pathophysiological Conditions. Neuron. 2017;94:595-610.e6 pubmed publisher
    ..Our study provides new mechanistic insights into the maintenance of axonal mitochondrial quality through SNPH-mediated coordination of mitochondrial stress and motility before activation of Parkin-mediated mitophagy. VIDEO ABSTRACT. ..
  5. Stopford M, Higginbottom A, Hautbergue G, Cooper Knock J, Mulcahy P, De Vos K, et al. C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Hum Mol Genet. 2017;26:1133-1145 pubmed publisher
    ..Our data indicate that PTEN may provide a potential therapeutic target to ameliorate toxic effects of the (G4C2)n repeat. ..
  6. Johnson J, Glynn S, Gibbs J, Nalls M, Sabatelli M, Restagno G, et al. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain. 2014;137:e311 pubmed publisher
  7. Majounie E, Abramzon Y, Renton A, Keller M, Traynor B, Singleton A. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging. 2012;33:2527.e1-2 pubmed publisher
    ..No large expansions were identified in our cohort. ..
  8. Renton A, Majounie E, Waite A, Simón Sánchez J, Rollinson S, Gibbs J, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257-68 pubmed publisher
    ..The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date. ..
  9. Iwata N, Kwan J, Danielian L, Butman J, Tovar Moll F, Bayat E, et al. White matter alterations differ in primary lateral sclerosis and amyotrophic lateral sclerosis. Brain. 2011;134:2642-55 pubmed publisher
    ..These findings indicate that degeneration is not selective for corticospinal neurons, but affects callosal neurons within the motor cortex in motor neuron disorders...

More Information


  1. Schymick J, Scholz S, Fung H, Britton A, Arepalli S, Gibbs J, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007;6:322-8 pubmed
    ..We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified. ..
  2. Bowen R, Drake S, Vanjani R, Huey E, Grafman J, Horne M. Markedly increased vitamin B12 concentrations attributable to IgG-IgM-vitamin B12 immune complexes. Clin Chem. 2006;52:2107-14 pubmed
  3. Kryndushkin D, Wickner R, Shewmaker F. FUS/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis. Protein Cell. 2011;2:223-36 pubmed publisher
    ..Moreover, the biophysical properties of FUS aggregates in yeast are distinctly different from many amyloidogenic proteins, suggesting they are not composed of amyloid. ..
  4. Traynor B, Nalls M, Lai S, Gibbs R, Schymick J, Arepalli S, et al. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci U S A. 2010;107:12335-8 pubmed publisher
    ..47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association. ..
  5. Lin X, Shim H, Cai H. Deficiency in the ALS2 gene does not affect the motor neuron degeneration in SOD1(G93A) transgenic mice. Neurobiol Aging. 2007;28:1628-30 pubmed
    ..Our data suggest that deficiency in the ALS2 gene does not affect the pathogenesis of SOD1(G93A) mice. ..
  6. Abramzon Y, Johnson J, Scholz S, Taylor J, Brunetti M, Calvo A, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:2231.e1-2231.e6 pubmed publisher
    ..Our data indicate that VCP mutations may underlie apparently sporadic ALS but account for <1% of this form of disease. ..
  7. Lai C, Xie C, Shim H, Chandran J, Howell B, Cai H. Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. Mol Brain. 2009;2:23 pubmed publisher
  8. Johnson J, Pioro E, Boehringer A, Chia R, Feit H, Renton A, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014;17:664-666 pubmed publisher
    ..We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. ..
  9. Zhang M, Xi Z, Zinman L, Bruni A, Maletta R, Curcio S, et al. Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain. 2015;138:e380 pubmed publisher
  10. Gershoni Emek N, Mazza A, Chein M, Gradus Pery T, Xiang X, Li K, et al. Proteomic Analysis of Dynein-Interacting Proteins in Amyotrophic Lateral Sclerosis Synaptosomes Reveals Alterations in the RNA-Binding Protein Staufen1. Mol Cell Proteomics. 2016;15:506-22 pubmed publisher
    ..Taken together, we suggest a model in which dynein's interaction with Staufen1 regulates mRNA localization along the axon and the synapses, and alterations in this process may correlate with synapse disruption and ALS toxicity. ..
  11. Floeter M, Traynor B, Farren J, Braun L, Tierney M, Wiggs E, et al. Disease progression in C9orf72 mutation carriers. Neurology. 2017;89:234-241 pubmed publisher
    ..Longitudinal changes in these measures occurred with disease progression in a manner consistent with presenting phenotype. ..
  12. Aliaga L, Lai C, Yu J, Chub N, Shim H, Sun L, et al. Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. Hum Mol Genet. 2013;22:4293-305 pubmed publisher
    ..Therefore, these findings provide new pathophysiological mechanisms of P56S VAPB that differentially affect the function and survival of CSMNs and SMNs in ALS8. ..
  13. Kesavapany S, Patel V, Zheng Y, Pareek T, Bjelogrlic M, Albers W, et al. Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons. Mol Biol Cell. 2007;18:3645-55 pubmed
  14. Momeni P, Schymick J, Jain S, Cookson M, Cairns N, Greggio E, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006;6:44 pubmed
    ..Confirmation of the pathogenicity of IFT74 sequence variants will require screening of other chromosome 9p-linked families. ..