一种PDE10A新发突变导致儿童期起病的伴有日间波动的舞蹈症。 - Suppr

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

作者信息

Esposito Silvia, Carecchio Miryam, Tonduti Davide, Saletti Veronica, Panteghini Celeste, Chiapparini Luisa, Zorzi Giovanna, Pantaleoni Chiara, Garavaglia Barbara, Krainc Dimitri, Lubbe Steven J, Nardocci Nardo, Mencacci Niccolò E

机构信息

Department of Paediatric Neuroscience, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

出版信息

Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26.

DOI:10.1002/mds.27175

PMID:28949041

Abstract

摘要

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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26.

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Mov Disord. 2018 Jan;33(1):177-179. doi: 10.1002/mds.27219. Epub 2017 Nov 22.

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Am J Med Genet A. 2018 Jan;176(1):146-150. doi: 10.1002/ajmg.a.38507. Epub 2017 Nov 12.

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Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

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引用本文的文献

Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.

Curr Issues Mol Biol. 2024 Jun 6;46(6):5632-5654. doi: 10.3390/cimb46060337.

Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With Encephalopathy.

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Front Neurol. 2022 Aug 8;13:886751. doi: 10.3389/fneur.2022.886751. eCollection 2022.

Huntington disease: Advances in the understanding of its mechanisms.

Clin Park Relat Disord. 2020 May 6;3:100056. doi: 10.1016/j.prdoa.2020.100056. eCollection 2020.

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Mov Disord. 2021 Oct;36(10):2225-2243. doi: 10.1002/mds.28686. Epub 2021 Jun 21.

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J Neural Transm (Vienna). 2021 Apr;128(4):447-471. doi: 10.1007/s00702-021-02335-x. Epub 2021 Apr 30.

Proc Natl Acad Sci U S A. 2020 Jan 7;117(1):677-688. doi: 10.1073/pnas.1916398117. Epub 2019 Dec 23.

Mov Disord Clin Pract. 2019 Aug 19;6(7):512-520. doi: 10.1002/mdc3.12816. eCollection 2019 Sep.

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J Inherit Metab Dis. 2018 Nov;41(6):1077-1091. doi: 10.1007/s10545-018-0205-0. Epub 2018 Jun 13.

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Curr Neurol Neurosci Rep. 2017 Oct 30;17(12):97. doi: 10.1007/s11910-017-0806-2.

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

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