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Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Overview of attention for article published in Acta Neuropathologica Communications, December 2017
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5 tweeters

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28 Dimensions

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68 Mendeley
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Title
Clinical and neuropathological features of ALS/FTD with TIA1 mutations
Published in
Acta Neuropathologica Communications, December 2017
DOI 10.1186/s40478-017-0493-x
Pubmed ID
Authors

Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M. Nicholson, Matt Baker, Ging-Yuek R. Hsiung, Charles Krieger, Pheth Sengdy, Kevin B. Boylan, Dennis W. Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A. Zivkovic, David Lacomis, J. Paul Taylor, Rosa Rademakers, Ian R. A. Mackenzie

Abstract

Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf72 (C9orf72+). All nine patients with confirmed mutations in TIA1 were female. The clinical phenotype was heterogeneous with a range in the age at onset from late twenties to the eighth decade (mean = 60 years) and disease duration from one to 6 years (mean = 3 years). Initial presentation was either focal weakness or language impairment. All affected individuals received a final diagnosis of ALS with or without FTD. No psychosis or parkinsonism was described. Neuropathological examination on five patients found typical features of ALS and frontotemporal lobar degeneration (FTLD-TDP, type B) with anatomically widespread TDP-43 proteinopathy. In contrast to C9orf72+ cases, caudate atrophy and hippocampal sclerosis were not prominent. Detailed evaluation of the pyramidal motor system found a similar degree of neurodegeneration and TDP-43 pathology as in sALS and C9orf72+ cases; however, cases with TIA1 mutations had increased numbers of lower motor neurons containing round eosinophilic and Lewy body-like inclusions on HE stain and round compact cytoplasmic inclusions with TDP-43 immunohistochemistry. Immunohistochemistry and immunofluorescence failed to demonstrate any labeling of inclusions with antibodies against TIA1. In summary, our TIA1 mutation carriers developed ALS with or without FTD, with a wide range in age at onset, but without other neurological or psychiatric features. The neuropathology was characterized by widespread TDP-43 pathology, but a more restricted pattern of neurodegeneration than C9orf72+ cases. Increased numbers of round eosinophilic and Lewy-body like inclusions in lower motor neurons may be a distinctive feature of ALS caused by TIA1 mutations.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 68 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 16 24%
Student > Master 6 9%
Student > Bachelor 6 9%
Student > Doctoral Student 4 6%
Professor 4 6%
Other 13 19%
Unknown 19 28%
Readers by discipline Count As %
Neuroscience 13 19%
Biochemistry, Genetics and Molecular Biology 11 16%
Medicine and Dentistry 9 13%
Agricultural and Biological Sciences 5 7%
Psychology 3 4%
Other 7 10%
Unknown 20 29%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 August 2018.
All research outputs
#11,772,888
of 20,168,546 outputs
Outputs from Acta Neuropathologica Communications
#877
of 1,194 outputs
Outputs of similar age
#207,157
of 435,257 outputs
Outputs of similar age from Acta Neuropathologica Communications
#57
of 88 outputs
Altmetric has tracked 20,168,546 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,194 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.4. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 435,257 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.
We're also able to compare this research output to 88 others from the same source and published within six weeks on either side of this one. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.