Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy

• SCA17 should be included in the differential diagnoses of PMEs. • SCA17 is characterized by cerebellar features, myoclonic epilepsy, cognitive decline, psychiatric features, and chorea. • Subtle clinical signs like chorea can provide additional diagnostic clues to SCA17(HDL4), a Huntington disease...

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Detalles Bibliográficos
Autores principales: Boongird, Apisit, Termsarasab, Pichet, Pulkes, Teeratorn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160684/
https://www.ncbi.nlm.nih.gov/pubmed/37152277
http://dx.doi.org/10.1016/j.ensci.2023.100463
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author Boongird, Apisit
Termsarasab, Pichet
Pulkes, Teeratorn
author_facet Boongird, Apisit
Termsarasab, Pichet
Pulkes, Teeratorn
author_sort Boongird, Apisit
collection PubMed
description • SCA17 should be included in the differential diagnoses of PMEs. • SCA17 is characterized by cerebellar features, myoclonic epilepsy, cognitive decline, psychiatric features, and chorea. • Subtle clinical signs like chorea can provide additional diagnostic clues to SCA17(HDL4), a Huntington disease phenocopy.
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spelling pubmed-101606842023-05-06 Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy Boongird, Apisit Termsarasab, Pichet Pulkes, Teeratorn eNeurologicalSci Letters to the Editor • SCA17 should be included in the differential diagnoses of PMEs. • SCA17 is characterized by cerebellar features, myoclonic epilepsy, cognitive decline, psychiatric features, and chorea. • Subtle clinical signs like chorea can provide additional diagnostic clues to SCA17(HDL4), a Huntington disease phenocopy. Elsevier 2023-04-15 /pmc/articles/PMC10160684/ /pubmed/37152277 http://dx.doi.org/10.1016/j.ensci.2023.100463 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Letters to the Editor
Boongird, Apisit
Termsarasab, Pichet
Pulkes, Teeratorn
Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title_full Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title_fullStr Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title_full_unstemmed Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title_short Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy
title_sort spinocerebellar ataxia type 17 presenting with progressive myoclonic epilepsy
topic Letters to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160684/
https://www.ncbi.nlm.nih.gov/pubmed/37152277
http://dx.doi.org/10.1016/j.ensci.2023.100463
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