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MAPT p.V363I mutation: A rare cause of corticobasal degeneration

OBJECTIVE: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associate...

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Autores principales: Ahmed, Sarah, Fairen, Monica Diez, Sabir, Marya S., Pastor, Pau, Ding, Jinhui, Ispierto, Lourdes, Butala, Ankur, Morris, Christopher M., Schulte, Claudia, Gasser, Thomas, Jabbari, Edwin, Pletnikova, Olga, Morris, Huw R., Troncoso, Juan, Gelpi, Ellen, Pantelyat, Alexander, Scholz, Sonja W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659135/
https://www.ncbi.nlm.nih.gov/pubmed/31404212
http://dx.doi.org/10.1212/NXG.0000000000000347
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author Ahmed, Sarah
Fairen, Monica Diez
Sabir, Marya S.
Pastor, Pau
Ding, Jinhui
Ispierto, Lourdes
Butala, Ankur
Morris, Christopher M.
Schulte, Claudia
Gasser, Thomas
Jabbari, Edwin
Pletnikova, Olga
Morris, Huw R.
Troncoso, Juan
Gelpi, Ellen
Pantelyat, Alexander
Scholz, Sonja W.
author_facet Ahmed, Sarah
Fairen, Monica Diez
Sabir, Marya S.
Pastor, Pau
Ding, Jinhui
Ispierto, Lourdes
Butala, Ankur
Morris, Christopher M.
Schulte, Claudia
Gasser, Thomas
Jabbari, Edwin
Pletnikova, Olga
Morris, Huw R.
Troncoso, Juan
Gelpi, Ellen
Pantelyat, Alexander
Scholz, Sonja W.
author_sort Ahmed, Sarah
collection PubMed
description OBJECTIVE: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT). METHODS: We performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array. RESULTS: We identified 2 patients with CBS heterozygous for a rare mutation in MAPT (p.V363I) that is located in the highly conserved microtubule-binding domain. One patient was pathologically confirmed and demonstrated extensive 4-repeat-tau-positive thread pathology, achromatic neurons, and astrocytic plaques consistent with corticobasal degeneration (CBD). CONCLUSIONS: We report 2 CBS cases carrying the rare p.V363I MAPT mutation, one of which was pathologically confirmed as CBD. Our findings support the notion that this rare coding change is pathogenic.
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spelling pubmed-66591352019-08-09 MAPT p.V363I mutation: A rare cause of corticobasal degeneration Ahmed, Sarah Fairen, Monica Diez Sabir, Marya S. Pastor, Pau Ding, Jinhui Ispierto, Lourdes Butala, Ankur Morris, Christopher M. Schulte, Claudia Gasser, Thomas Jabbari, Edwin Pletnikova, Olga Morris, Huw R. Troncoso, Juan Gelpi, Ellen Pantelyat, Alexander Scholz, Sonja W. Neurol Genet Article OBJECTIVE: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT). METHODS: We performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array. RESULTS: We identified 2 patients with CBS heterozygous for a rare mutation in MAPT (p.V363I) that is located in the highly conserved microtubule-binding domain. One patient was pathologically confirmed and demonstrated extensive 4-repeat-tau-positive thread pathology, achromatic neurons, and astrocytic plaques consistent with corticobasal degeneration (CBD). CONCLUSIONS: We report 2 CBS cases carrying the rare p.V363I MAPT mutation, one of which was pathologically confirmed as CBD. Our findings support the notion that this rare coding change is pathogenic. Wolters Kluwer 2019-06-25 /pmc/articles/PMC6659135/ /pubmed/31404212 http://dx.doi.org/10.1212/NXG.0000000000000347 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Article
Ahmed, Sarah
Fairen, Monica Diez
Sabir, Marya S.
Pastor, Pau
Ding, Jinhui
Ispierto, Lourdes
Butala, Ankur
Morris, Christopher M.
Schulte, Claudia
Gasser, Thomas
Jabbari, Edwin
Pletnikova, Olga
Morris, Huw R.
Troncoso, Juan
Gelpi, Ellen
Pantelyat, Alexander
Scholz, Sonja W.
MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title_full MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title_fullStr MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title_full_unstemmed MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title_short MAPT p.V363I mutation: A rare cause of corticobasal degeneration
title_sort mapt p.v363i mutation: a rare cause of corticobasal degeneration
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659135/
https://www.ncbi.nlm.nih.gov/pubmed/31404212
http://dx.doi.org/10.1212/NXG.0000000000000347
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