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Sonja W Scholz, M.D., Ph.D.

Neurodegenerative Diseases Research Unit

Neurogenetics Branch
Building 35 Room 1A-1000
35 Convent Drive
Bethesda MD 20892-3707
Office: (301)-435-7606

Fax: 301)-451-7295

Dr. Scholz is a Neurologist and Neurogeneticist specialized in movement and cognitive disorders. She received her medical degree from the Medical University Innsbruck, Austria. Following graduation, she was a post-doctoral fellow at the Laboratory of Neurogenetics (NIA) under the supervision of Drs. Andrew Singleton and John Hardy. She obtained a Ph.D. in Neurogenomics from the University College London, UK in 2010. She then moved to Baltimore to complete her neurology residency training at Johns Hopkins. In 2015, Dr. Scholz received the McFarland Transition to Independence Award for Neurologist-Scientists.  She is a Lasker Clinical Research Tenure Track Investigator within the Neurogenetics Branch (NINDS). Her laboratory focuses on identifying genetic causes of neurodegenerative diseases, such as dementia with Lewy bodies, multiple system atrophy, and frontotemporal dementia.

Advances in genomic technologies have provided us with unprecedented capabilities to explore heritable factors involved in the development of neurological diseases. Neurogenetics has already revolutionized how we think about common neurodegenerative diseases, such as Alzheimer dementia and Parkinson disease.

We extend the application of these powerful genomic techniques to other neurodegenerative diseases, such as Lewy body dementia, multiple system atrophy, frontotemporal dementia, progressive supranuclear palsy and corticobasal degeneration. The Neurodegenerative Diseases Research Unit (NDRU), under the leadership of Dr. Sonja Scholz, has been established to achieve this aim. NDRU is integrated within the Laboratory of Neurogenetics, a leader in this field over the last decade. Its primary mission is to unravel molecular genetic mechanisms that cause these devastating diseases. This knowledge identifies targets for drug development. To maximize our impact, we will build on our national and international collaborations, and we will leverage the unique resources within the Intramural Research Program at the NIH.

As part of this effort, we have established an atypical parkinsonism clinic at the NIH Clinical Center to study the natural history and molecular characteristics of patients suffering from these devastating conditions.

Staff Image
  • Makayla Portley, B.A.
    Post baccalaureate IRTA Fellow

  • Marya Sabir, B.S.
    Graduate Student (NIH – Oxford Program)

  • 1) Allnutt MA, Johnson K, Pletnikova O, Bennett DA, Connor SM, Troncoso JC, Pletnikova O, Albert MS, Resnick SM, Scholz SW, De Jager P, Jacobson S (2020)
  • Human herpesvirus-6 (HHV-6) detection in Alzheimer’s disease cases and controls across multiple independent repositories
  • Neuron, 105:1-9, PMID: 31983538
  • 2) Blauwendraat C, Pletnikova O, Geiger JT, Murphy NA, Abramzon Y, Rudow G, Mamais A, Sabir MS, Crain B, Ahmed S, Rosenthal LS, Bakker CC, Faghri F, Chia R, Ding J, Dawson TM, Pantelyat A, Albert MA, Nalls MA, Resnick SM, Ferrucci L, Cookson MR, Hillis AE, Troncoso JC, Scholz SW (2019)
  • Genetic analysis of neurodegenerative diseases in a pathology cohort
  • Neurobiol Aging, 2019 Apr;76:214.e1-214.e9. PMID: 30528841.
  • 3) Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simon-Sanchez J, Schulte C, Sharma M, Krohn L, Pihlstrom L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol J-C, Lesage S, Jankovic J, Shulman LM, The 23andMe Research Team, System Genomics of Parkinson’s Disease (SGPD) Consortium, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood N, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, for the International Parkinson's Disease Genomics Consortium (2019)
  • Identification of novel risk loci, causal insights, and heritable risk for Parkinson’s disease: a meta-analysis of genome-wide association studies
  • Lancet Neurol, 2019 Dec;18(12), 1091-1102. PMID: 31701892
  • 4) Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ, Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simon-Sanchez J, Nalls MA, Singleton AB, Scholz SW (2017)
  • NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
  • Neurobiol Aging, 57:247.e9-247, PMID 28602509
  • 5) Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB; North American Brain Expression Consortium., Hardy JA, Troncoso JC, Scholz SW. (2016)
  • Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.
  • Neurobiol Dis., 94, 55-62.
  • 6) Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, Wood NW, Traynor BJ, Ferrucci L, Federoff HJ, Mhyre TR, Morris HR, Deuschl G, Quinn N, Widner H, Albanese A, Infante J, Bhatia KP, Poewe W, Oertel W, Höglinger GU, Wüllner U, Goldwurm S, Pellecchia MT, Ferreira J, Tolosa E, Bloem BR, Rascol O, Meissner WG, Hardy JA, Revesz T, Holton JL, Gasser T, Wenning GK, Singleton AB, Houlden H. (2016)
  • European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group. A genome-wide association study in multiple system atrophy.
  • Neurology, 87(15), 1591-1598.
  • 7) Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011)
  • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
  • Neuron, 2011 Oct 20;72(2):257-68
  • 8) Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T (2009)
  • SNCA variants are associated with increased risk for multiple system atrophy
  • Ann Neurol, 2009 May;65(5):610-4
  • 9) Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T (2009)
  • Genome-wide association study reveals genetic risk underlying Parkinson's disease
  • Nat Genet, 2009 Dec;41(12):1308-12
  • 10) Camargos S, Scholz S (joint first author), Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB (2008)
  • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
  • Lancet Neurol, 2008 Mar;7(3):207-15
  • 11) Jakobsson M, Scholz SW (joint first author), Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB (2008)
  • Genotype, haplotype and copy-number variation in worldwide human populations
  • Nature, 2008 Feb 21;451(7181):998-1003
  • 12) Schymick JC, Scholz SW (joint first author), Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ (2007)
  • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
  • Lancet Neurol, 2007 Apr;6(4):322-8
  • 13) Hardy J, Scholz S, Evans W, Goldfarb L, Singleton A (2006)
  • Prion genotypes in Central America suggest selection for the V129 allele
  • Am J Med Genet B Neuropsychiatr Genet, 2006 Jan 5;141B(1):33-5
  • 14) Fung HC, Scholz S (joint first author), Matarin M (joint first author), Simón-Sánchez J (joint first author), Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A (2006)
  • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
  • Lancet Neurol, 2006 Nov;5(11):911-6
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