Cited by 119Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

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Vass, Ryan, Ashbridge, Emily, Geser, Felix, Hu, William T., Grossman, Murray, Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Lee, Virginia M. Y., Van Deerlin, Vivianna M., Trojanowski, John Q., Chen-Plotkin, Alice S.·2011·Acta Neuropathologica

DOI 10.1007/s00401-010-0782-yPMC PMC3095217

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Abstract

TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP). Amyotrophic lateral sclerosis (ALS), like FTLD-TDP, is characterized by pathological TDP-43 inclusions. We therefore investigated whether FTLD-TDP-associated risk genotypes at TMEM106B (1) contribute to risk of developing ALS or (2) modify the clinical presentation in ALS. Detailed clinical and pathological information from 61 postmortem ALS patients was collected by database query, retrospective chart review, and histopathological slide review. DNA from these patients, as well as 24 additional ALS patients, was genotyped for three TMEM106B single nucleotide polymorphisms known to confer increased risk of FTLD-TDP. Associations between TMEM106B genotype and ALS were investigated by comparing TMEM106B genotypes in ALS patients (n = 85) and normal controls (n = 553), and associations between TMEM106B genotype and clinical and pathologic features were explored using linear regression. Multivariate linear models were used to evaluate the contributions of TMEM106B genotype and TDP-43 pathology to cognitive performance in ALS as measured by a phonemic verbal fluency test. We found that TMEM106B genotypes did not differ between ALS patients and normal controls. However, protective alleles at TMEM106B were significantly associated with preserved cognition in ALS patients, with the strongest association seen under a major-allele-dominant genetic model. While lower TDP-43 pathology scores and protective alleles at TMEM106B both correlated with better cognitive scores, these factors were not correlated with each other and demonstrated independent effects. These findings implicate the FTLD-TDP risk gene TMEM106B in the development of cognitive impairment in ALS.

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Authors: Vass, R., Ashbridge, E., Geser, F., Hu, W. T., Grossman, M., Clay-Falcone, D., Elman, L., McCluskey, L., Lee, V. M. Y., Van Deerlin, V. M., Trojanowski, J. Q., & Chen-Plotkin, A. S.
Affiliations: University of Pennsylvania (US)
Emory University (US)
ORCID: Geser, Felix
Hu, William T.
Grossman, Murray
Elman, Lauren
Lee, Virginia M. Y.
Trojanowski, John Q.
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2010-11-23
Volume: 121
Issue: 3
Pages: 373-380
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-010-0782-y
PMC: PMC3095217
OpenAlex: W2122280937
Cited by: 119
References: 32
Citations by year: 2026: 7 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 11 · 2021: 6 · 2020: 8 · 2019: 5 · 2018: 8 · 2017: 5 · 2016: 7 · 2015: 8 · 2014: 14 · 2013: 6 · 2012: 6
FWCI: 3.43
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Acta Neuropathologica (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: University of Pennsylvania
National Institute on Aging (AG033101, AG-32953, P30AG010124, P01AG017586, AG17586, AG-10124, K08AG033101, P01AG032953)
National Institute of Neurological Disorders and Stroke (NS-44266, R01NS044266)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: TMEM106B, amyotrophic lateral sclerosis, cognitive impairment, TDP-43 pathology, frontotemporal lobar degeneration, single nucleotide polymorphisms, genetic risk factors, phonemic fluency, postmortem neuropathology
MeSH terms: Adult, Aged, Amyotrophic Lateral Sclerosis, Autopsy, Cognition Disorders, Female, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Nerve Tissue Proteins, Retrospective Studies, Risk Factors, Comorbidity, Linear Models, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Frontotemporal Lobar Degeneration

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Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

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