Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia-Reference-Cited by-同舟云学术

Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia

Published:2021-11-09 Issue:1 Volume:42 Page:58-65
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Sytsma Trevor M.¹,Chen Dong‐Hui²,Rolf Bradley³,Dorschner Michael³,Jayadev Suman¹²³,Keene C. Dirk¹,Zhang Jing¹,Bird Thomas D.²³⁴,Latimer Caitlin S.¹^ORCID

Affiliation:

1. Neuropathology Division, Department of Laboratory Medicine and Pathology University of Washington School of Medicine Seattle Washington USA

2. Department of Neurology University of Washington School of Medicine Seattle Washington USA

3. Division of Medical Genetics, Department of Medicine University of Washington School of Medicine Seattle Washington USA

4. Geriatric Research Education and Clinical Center VA Puget Sound Health Care System Seattle Washington USA

Funder

National Institute of Neurological Disorders and Stroke

National Institute on Aging

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12775

Reference26 articles.

1. Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

2. RNA Polymerase III Detects Cytosolic DNA and Induces Type I Interferons through the RIG-I Pathway

3. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

4. Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A 24-Year-Old Man With Spastic Ataxia and Hypodontia;JAMA Neurology;2024-06-01

2. POLR3A-related disorders: expanding the clinical phenotype;Journal of Neurology;2024-02-27

3. A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review;Frontiers in Neurology;2023-10-27

4. A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood;L.O. Badalyan Neurological Journal;2022-09-30