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Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.
Agin-Liebes, Julian; Hickman, Richard A; Vonsattel, Jean Paul; Faust, Phyllis L; Flowers, Xena; Utkina Sosunova, Irina; Ntiri, Joel; Mayeux, Richard; Surface, Matthew; Marder, Karen; Fahn, Stanley; Przedborski, Serge; Alcalay, Roy N.
Afiliación
  • Agin-Liebes J; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
  • Hickman RA; Department of Defense/Uniformed Services University Brain Tissue Repository, Departments of Pathology and Surgery, Uniformed Services University, Bethesda, Maryland, USA.
  • Vonsattel JP; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
  • Faust PL; Henry M. Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, Maryland, USA.
  • Flowers X; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, New York, USA.
  • Utkina Sosunova I; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, New York, USA.
  • Ntiri J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, New York, USA.
  • Mayeux R; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
  • Surface M; Columbia College, New York, New York, USA.
  • Marder K; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
  • Fahn S; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
  • Przedborski S; The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
  • Alcalay RN; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Mov Disord ; 38(8): 1541-1545, 2023 08.
Article en En | MEDLINE | ID: mdl-37218402
OBJECTIVE: To assess for TDP-43 deposits in brains with and without a LRRK2 G2019S mutation. BACKGROUND: LRRK2 G2019S mutations have been associated with parkinsonism and a wide range of pathological findings. There are no systematic studies examining the frequency and extent of TDP-43 deposits in neuropathological samples from LRRK2 G2019S carriers. METHODS: Twelve brains with LRRK2 G2019S mutations were available for study from the New York Brain Bank at Columbia University; 11 of them had samples available for TDP-43 immunostaining. Clinical, demographic, and pathological data are reported for 11 brains with a LRRK2 G2019S mutation and compared to 11 brains without GBA1 or LRRK2 G2019S mutations with a pathologic diagnosis of Parkinson's disease (PD) or diffuse Lewy body disease. They were frequency matched by age, gender, parkinsonism age of onset, and disease duration. RESULTS: TDP-43 aggregates were present in 73% (n = 8) of brains with a LRRK2 mutation and 18% (n = 2) of brains without a LRRK2 mutation (P = 0.03). In one brain with a LRRK2 mutation, TDP-43 proteinopathy was the primary neuropathological change. CONCLUSIONS: Extranuclear TDP-43 aggregates are observed with greater frequency in LRRK2 G2019S autopsies compared to PD cases without a LRRK2 G2019S mutation. The association between LRRK2 and TDP-43 should be further explored. © 2023 International Parkinson and Movement Disorder Society.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Trastornos Parkinsonianos Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Trastornos Parkinsonianos Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos