An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy-Reference-Cited by-同舟云学术

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy

Published:2021-01-07 Issue:2 Volume:41 Page:118-126
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Matsubara Tomoyasu¹²³^ORCID,Izumi Yuishin¹⁴^ORCID,Oda Masaya¹,Takahashi Masatoshi⁵,Maruyama Hirofumi³^ORCID,Miyamoto Ryosuke⁴^ORCID,Watanabe Chigusa⁶,Tachiyama Yoshiro⁷,Morino Hiroyuki³⁸^ORCID,Kawakami Hideshi⁸^ORCID,Saito Yuko²,Murayama Shigeo²⁹^ORCID

Affiliation:

1. Department of Neurology Mifukai Vihara Hananosato Hospital Hiroshima Japan

2. Department of Neurology and Neuropathology (The Brain Bank for Aging Research) Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology Tokyo Japan

3. Department of Clinical Neuroscience and Therapeutics Hiroshima University Graduate School of Biomedical and Health Sciences Hiroshima Japan

4. Department of Neurology Tokushima University Graduate School of Biomedical Sciences Tokushima Japan

5. Department of Neurology Shinko Hospital Kobe Japan

6. Department of Neurology National Hospital Organization Hiroshima‐Nishi Medical Center Hiroshima Japan

7. Department of Clinical Laboratory National Hospital Organization Hiroshima‐Nishi Medical Center Hiroshima Japan

8. Department of Epidemiology Research Institute for Radiation Biology and Medicine, Hiroshima University Hiroshima Japan

9. Molecular Research Center for Children's Mental Development (Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders) United Graduate School of Child Development, Osaka University Osaka Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12710

Reference91 articles.

1. Amyotrophic Lateral Sclerosis

2. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

3. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein