Cargando…

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis

OBJECTIVE: To present the postmortem neuropathologic report of a patient with a CHCHD10 mutation exhibiting an amyotrophic lateral sclerosis (ALS) clinical phenotype. METHODS: A 54-year-old man without significant medical history or family history presented with arm weakness, slowly progressed over...

Descripción completa

Detalles Bibliográficos
Autores principales:	Keith, Julia L., Swinkin, Emily, Gao, Andrew, Alminawi, Samira, Zhang, Ming, McGoldrick, Philip, McKeever, Paul, Robertson, Janice, Rogaeva, Ekaterina, Zinman, Lorne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975173/ https://www.ncbi.nlm.nih.gov/pubmed/32042922 http://dx.doi.org/10.1212/NXG.0000000000000394

Ejemplares similares

DNA methylation age acceleration is associated with ALS age of onset and survival
por: Zhang, Ming, et al.
Publicado: (2020)

Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death
por: Xiao, Shangxi, et al.
Publicado: (2015)

DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients
por: Zhang, Ming, et al.
Publicado: (2017)

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression
por: McGoldrick, Philip, et al.
Publicado: (2018)

Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson’s Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia
por: Imai, Yuzuru, et al.
Publicado: (2019)

TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia
por: Sidibé, Hadjara, et al.
Publicado: (2021)

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease
por: Oliveira, Lais M., et al.
Publicado: (2021)

Clinical Significance of TDP-43 Neuropathology in Amyotrophic Lateral Sclerosis
por: Cykowski, Matthew D., et al.
Publicado: (2017)

Sympathetic neuropathology is revealed in muscles affected by amyotrophic lateral sclerosis
por: Mazzaro, Antonio, et al.
Publicado: (2023)

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)
por: Yunusova, Yana, et al.
Publicado: (2011)

Retinal Spheroids and Axon Pathology Identified in Amyotrophic Lateral Sclerosis
por: Sharma, Kieran, et al.
Publicado: (2020)

Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants
por: Borrego‐Écija, Sergi, et al.
Publicado: (2021)

Rate of speech decline in individuals with amyotrophic lateral sclerosis
por: Eshghi, Marziye, et al.
Publicado: (2022)

Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS
por: McGoldrick, Philip, et al.
Publicado: (2023)

Breached Barriers: A Scoping Review of Blood-Central Nervous System Barrier Pathology in Amyotrophic Lateral Sclerosis
por: Mirian, Ario, et al.
Publicado: (2022)

Cerebral atrophy in amyotrophic lateral sclerosis parallels the pathological distribution of TDP43
por: Dadar, Mahsa, et al.
Publicado: (2020)

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
por: Orlacchio, Antonio, et al.
Publicado: (2010)

Frontal Anatomical Correlates of Cognitive and Speech Motor Deficits in Amyotrophic Lateral Sclerosis
por: Yunusova, Yana, et al.
Publicado: (2019)

Frontotemporal dementia and amyotrophic lateral sclerosis: revisiting one of the first case reports with neuropathology examination
por: Nitrini, Ricardo
Publicado: (2014)

Predicting Speech Intelligibility Decline in Amyotrophic Lateral Sclerosis Based on the Deterioration of Individual Speech Subsystems
por: Rong, Panying, et al.
Publicado: (2016)

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation
por: Kirby, J, et al.
Publicado: (2013)

The FUS gene is dual‐coding with both proteins contributing to FUS‐mediated toxicity
por: Brunet, Marie A, et al.
Publicado: (2020)

Face and content validation of the amyotrophic lateral sclerosis—Bulbar dysfunction index (ALS-BDI)
por: Yunusova, Yana, et al.
Publicado: (2023)

CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response
por: Ruan, Yu, et al.
Publicado: (2022)

Profiling Speech and Pausing in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
por: Yunusova, Yana, et al.
Publicado: (2016)

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
por: Johnson, Janel O., et al.
Publicado: (2014)

CHCHD2 p.Thr61Ile knock‐in mice exhibit motor defects and neuropathological features of Parkinson's disease
por: Fan, Liyuan, et al.
Publicado: (2022)

Descriptive Epidemiology of Amyotrophic Lateral Sclerosis in Japan, 1995-2001
por: Okamoto, Kazushi, et al.
Publicado: (2005)

Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10–what distinguishes the two?
por: Ikeda, Aya, et al.
Publicado: (2022)

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels
por: Xiao, Shangxi, et al.
Publicado: (2019)

Involvement of the dentate nucleus in the pathophysiology of amyotrophic lateral sclerosis: A multi-center and multi-modal neuroimaging study
por: Bharti, Komal, et al.
Publicado: (2020)

Distinct patterns of progressive gray and white matter degeneration in amyotrophic lateral sclerosis
por: Ishaque, Abdullah, et al.
Publicado: (2021)

CHCHD2 and CHCHD10: Future therapeutic targets in cognitive disorder and motor neuron disorder
por: Jiang, Tianlin, et al.
Publicado: (2022)

PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction
por: Zhou, Wei, et al.
Publicado: (2019)

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis
por: Lim, Su Min, et al.
Publicado: (2016)

Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis
por: Dodge, James C., et al.
Publicado: (2021)

Editorial: The role of gene mutations in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)– Progress and challenges
por: Troakes, Claire, et al.
Publicado: (2023)

Clinical and neuropathological features of ALS/FTD with TIA1 mutations
por: Hirsch-Reinshagen, Veronica, et al.
Publicado: (2017)

Protocol for psychometric evaluation of the Amyotrophic Lateral Sclerosis - Bulbar Dysfunction Index (ALS-BDI): a prospective longitudinal study
por: Yunusova, Yana, et al.
Publicado: (2022)

Amyotrophic lateral sclerosis
por: Wijesekera, Lokesh C, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_vnoqie8ot8c7bbm92ihe5vm2pq