A pathologically confirmed case of combined amyotrophic lateral sclerosis with <i>C9orf72</i> mutation and multiple system atrophy-Reference-Cited by-同舟云学术

A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy

Published:2022-06-23 Issue:4 Volume:42 Page:302-308
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

King Andrew¹²^ORCID,Lee Yuan Kai³,Jones Shalmai²,Troakes Claire²

Affiliation:

1. Department Of Clinical Neuropathology King's College Hospital, Denmark Hill London UK

2. London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London London UK

3. Department of Neurology Eastbourne District General Hospital, King's Drive East Sussex UK

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12808

Reference17 articles.

1. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

2. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

3. C9orf72 repeat expansions are a rare genetic cause of parkinsonism

4. The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

5. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

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2. Multiple system atrophy: at the crossroads of cellular, molecular and genetic mechanisms;Nature Reviews Neuroscience;2023-04-21

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