The Genetics of TDP-43 Type C Neurodegeneration

This study provides replicated evidence for the association between common variants in <i>ANXA11</i> with TDP-C. Knowing rs1079242-A affects ANXA11 level in CSF, future studies may aim to investigate ANXA11 level as potential CSF biomarker for TDP-C. Moreover, <i>FIG4 and ANXA11</i> have been implicated in the inositol pathway. Our results provide novel insights into the genetic risk of TDP-C and offer new clues about its underpinning mechanisms.

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Publication Details

Journal
Neurology Genetics
Published
2026-03-23
DOI
https://doi.org/10.1212/nxg.0000000000200369
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
0.00
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article

The Genetics of TDP-43 Type C Neurodegeneration

Anna Bonfitto, Ivan N. Ayala, Malik Nassan, Tamar Gefen et al.
Neurology Genetics
Amyotrophic Lateral Sclerosis Research
article

The Genetics of TDP-43 Type C Neurodegeneration

Anna Bonfitto, Ivan N. Ayala, Malik Nassan, Tamar Gefen, Matthew J. Huentelman, Serena Song, Jennifer L. Sloan, Ignazio Stefano Piras, Marcus Naymik, Changiz Geula, Elena Barbieri, Bobbi Stark, M.-Marsel Mesulam
article en

Abstract

This study provides replicated evidence for the association between common variants in <i>ANXA11</i> with TDP-C. Knowing rs1079242-A affects ANXA11 level in CSF, future studies may aim to investigate ANXA11 level as potential CSF biomarker for TDP-C. Moreover, <i>FIG4 and ANXA11</i> have been implicated in the inositol pathway. Our results provide novel insights into the genetic risk of TDP-C and offer new clues about its underpinning mechanisms.

Neurology GeneticsVol. 12(2)
Northwestern University (US), Translational Genomics Research Institute (US), Alzheimer’s Disease Neuroimaging Initiative (US)
Zero hunger
Openalex Percentile: Top 20%
Amyotrophic Lateral Sclerosis Research
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The Genetics of TDP-43 Type C Neurodegeneration — Anna Bonfitto, Ivan N. Ayala, et al. · Neurology Genetics (2026) | TGRS Research Map | TGRS