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Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.

作者信息

Kaur Ranjot, Agarwal Ayush, Garg Divyani, Shankar Ashvarya, Sharma Pooja, De Tiyasha, Wasiq Mohammed, Rajan Roopa, Garg Ajay, Faruq Mohammed, Srivastava Achal K

机构信息

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Division of Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India.

出版信息

Ann Indian Acad Neurol. 2025 Jan 1;28(1):120-122. doi: 10.4103/aian.aian_532_24. Epub 2024 Oct 10.

DOI:10.4103/aian.aian_532_24
PMID:39724544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11892984/
Abstract
摘要

相似文献

1
Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.一个印度家庭三代连续出现伴有遗传早现现象的齿状核红核苍白球路易体萎缩症（DRPLA）
Ann Indian Acad Neurol. 2025 Jan 1;28(1):120-122. doi: 10.4103/aian.aian_532_24. Epub 2024 Oct 10.
2
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.遗传性齿状核红核苍白球路易体萎缩症的DNA分析：CAG重复序列长度与表型变异的相关性及遗传早现的分子基础
Neurology. 1995 Jan;45(1):143-9. doi: 10.1212/wnl.45.1.143.
3
[Molecular basis of heterogeneities of clinical presentation of dentatorubral pallidoluysian atrophy (DRPLA)].[齿状核红核苍白球路易体萎缩（DRPLA）临床表现异质性的分子基础]
Rinsho Shinkeigaku. 1994 Dec;34(12):1227-9.
4
Anticipation in hereditary dentatorubral-pallidoluysian atrophy.遗传性齿状核红核苍白球路易体萎缩中的早现现象。
Hum Genet. 1994 Jun;93(6):699-702. doi: 10.1007/BF00201575.
5
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.了解齿状核红核苍白球路易体萎缩症（DRPLA）的症状及其对日常生活的影响：一项对患者及其照料者的定性访谈研究
Ther Adv Rare Dis. 2024 May 20;5:26330040241252447. doi: 10.1177/26330040241252447. eCollection 2024 Jan-Dec.
6
Dentatorubral-pallidoluysian atrophy: a case report and review of literature.齿状核-红核-苍白球-路易体萎缩症：病例报告及文献复习。
J Med Case Rep. 2024 Sep 6;18(1):429. doi: 10.1186/s13256-024-04745-3.
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Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.齿状核红核苍白球路易体萎缩症或内藤-大柳病。
Neurogenetics. 1998 Dec;2(1):1-17. doi: 10.1007/s100480050046.
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Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.伴有认知障碍、癫痫、运动障碍和精神病的齿状核红核苍白球路易体萎缩——1例病例
Neurocase. 2025 Jan 1:1-3. doi: 10.1080/13554794.2024.2447116.
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Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.建立资源并提高认识，以推动齿状核红核苍白球路易体萎缩症的治疗研究：患者组织的视角
Ther Adv Rare Dis. 2024 May 6;5:26330040241249189. doi: 10.1177/26330040241249189. eCollection 2024 Jan-Dec.
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[A case of juvenile type dentatorubral-pallidoluysian atrophy (DRPLA) with psychomotor retardation since infancy].[一例自婴儿期起伴有精神运动发育迟缓的青少年型齿状核红核苍白球路易体萎缩症（DRPLA）]
No To Hattatsu. 1998 Nov;30(6):543-8.

本文引用的文献

1
Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.齿状核红核苍白球路易体萎缩症中Atrophin-1的功能与功能障碍
Mov Disord. 2023 Apr;38(4):526-536. doi: 10.1002/mds.29355. Epub 2023 Feb 21.
2
Dentatorubral-pallidoluysian Atrophy: An Update.齿状核红核苍白球路易体萎缩：最新进展
Tremor Other Hyperkinet Mov (N Y). 2018 Oct 1;8:577. doi: 10.7916/D81N9HST. eCollection 2018.
3
Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy.老年起病的齿状核红核苍白球路易体萎缩的临床和磁共振成像特征。
J Neurol. 2018 Feb;265(2):322-329. doi: 10.1007/s00415-017-8705-7. Epub 2017 Dec 13.
4
Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.巴西700个共济失调家庭中的齿状核红核苍白球路易体萎缩症（DRPLA）
Cerebellum. 2017 Aug;16(4):812-816. doi: 10.1007/s12311-017-0862-9.
5
Dentatorubral-pallidoluysian atrophy.齿状核红核苍白球路易体萎缩症
Handb Clin Neurol. 2012;103:587-94. doi: 10.1016/B978-0-444-51892-7.00041-3.
6
Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.齿状核红核苍白球路易体萎缩症中萎缩素-1的病理性积聚。
Int J Clin Exp Pathol. 2011 Apr;4(4):378-84. Epub 2011 Apr 25.
7
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length.齿状核红核苍白球路易体萎缩症的长期残疾和预后：与 CAG 重复长度的相关性。
Mov Disord. 2010 Aug 15;25(11):1694-700. doi: 10.1002/mds.23167.
8
Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.患有齿状核红核苍白球路易体萎缩症（DRPLA）的葡萄牙家庭共享一种亚洲起源的常见单倍型。
Eur J Hum Genet. 2003 Oct;11(10):808-11. doi: 10.1038/sj.ejhg.5201054.