ArticleNeurobiology of aging2016
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
Article in Neurobiology of aging, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases.Progress in neurobiology · 2025Review
- Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.Neurology. Genetics · 2025Article
- Review
- Converging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis?Neural regeneration research · 2023Review
- Finding New Ways How to Control BACE1.The Journal of membrane biology · 2022Article
- Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.Molecular neurodegeneration · 2022Review
- Glycosylated Cathepsin V Serves as a Prognostic Marker in Lung Cancer.Frontiers in oncology · 2022Article
- Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.Alzheimer's & dementia (Amsterdam, Netherlands) · 2021Review
- Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis.Molecular and cellular biology · 2020Review
- Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.Cells · 2020Review
- A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in neurology · 2020Review
- Recent advances in the genetics of frontotemporal dementia.Current genetic medicine reports · 2019Article
- The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- The influence of two functional genetic variants of GRK5 on tau phosphorylation and their association with Alzheimer's disease risk.Oncotarget · 2017Article
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Authors and funding
12 authors at 6 institutions in 5 countries.
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Abstract
We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD). In this analysis, we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset AD in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: the CTSF c.1243G>A:p.Gly415Arg mutation in homozygosity. Biallelic mutations in this gene have been shown to cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis with some cases resembling the impairment seen in AD.
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