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Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez, Pilar; Daida, Kensuke; Miano-Burkhardt, Abigail; Iwaki, Hirotaka; Malik, Laksh; Cogan, Guillaume; Makarious, Mary B; Sullivan, Roisin; Vandrovcova, Jana; Ding, Jinhui; Gibbs, J Raphael; Markham, Androo; Nalls, Mike A; Kesharwani, Rupesh K; Sedlazeck, Fritz J; Casey, Bradford; Hardy, John; Houlden, Henry; Blauwendraat, Cornelis; Singleton, Andrew B; Billingsley, Kimberley J.
Affiliation
  • Alvarez Jerez P; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Daida K; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
  • Miano-Burkhardt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Iwaki H; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Malik L; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
  • Cogan G; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Makarious MB; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
  • Sullivan R; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Vandrovcova J; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
  • Ding J; DataTecnica LLC, Washington, DC, USA.
  • Gibbs JR; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.
  • Markham A; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Nalls MA; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique, Paris, France.
  • Kesharwani RK; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Sedlazeck FJ; UCL Movement Disorders Centre, University College London, London, UK.
  • Casey B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Hardy J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Houlden H; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
  • Singleton AB; Oxford Nanopore Technologies, Oxford, UK.
  • Billingsley KJ; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
NPJ Parkinsons Dis ; 10(1): 108, 2024 May 24.
Article in En | MEDLINE | ID: mdl-38789445
ABSTRACT
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson's disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European ancestry in 1609 individuals from the Parkinson's Progression Markers Initiative study. We identified four PD patients carrying the biallelic RFC1 (AAGGG) expansion and did not identify any carriers in controls.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Parkinsons Dis Year: 2024 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Parkinsons Dis Year: 2024 Document type: Article Affiliation country: