ArticleJournal of neurology, neurosurgery, and psychiatry2012
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
Article in Journal of neurology, neurosurgery, and psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 5 of them syntheses that pooled it.
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Who cites it
95 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Neuropsychological Profiles in Genetic Frontotemporal Dementia: A Meta-Analysis and Systematic Review.Aging and disease · 2024Pooled it
- Premorbid de novo artistic creativity in frontotemporal dementia (FTD) syndromes.Journal of neural transmission (Vienna, Austria : 1996) · 2021Pooled it
- The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.Brain imaging and behavior · 2021Pooled it
- Tracking disease progression in familial and sporadic frontotemporal lobar degeneration: Recent findings from ARTFL and LEFFTDS.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Pooled it
- Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review.Alzheimer's research & therapy · 2019Pooled it
- Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials.Brain : a journal of neurology · 2019Trial
- Diagnosis of Frontotemporal Dementia in Individuals With Late-Onset Behavioral Changes: Importance of Genetic Counseling.Neurology. Genetics · 2026Article
- Early disruption of the CREB pathway drives dendritic morphological alterations in FTD/ALS cortical neurons.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Small molecules targeting different cellular pathologies for the treatment of amyotrophic lateral sclerosis.Medicinal research reviews · 2023Review
- Frontotemporal Dementia, Where Do We Stand? A Narrative Review.International journal of molecular sciences · 2023Review
- Survival in Huntington's disease and other young-onset dementias.International journal of geriatric psychiatry · 2023Article
- Young-onset dementia diagnosis, management and care: a narrative review.The Medical journal of Australia · 2023Review
- Dissecting the Many Faces of Frontotemporal Dementia: An Imaging Perspective.International journal of molecular sciences · 2022Review
- Is Telomere Length Shortening a Risk Factor for Neurodegenerative Disorders?Dementia and neurocognitive disorders · 2022Review
- Plasma Neurofilament Light Chain and Clinical Diagnosis in Frontotemporal Dementia Syndromes.Journal of Alzheimer's disease : JAD · 2022Article
- Plasma NfL levels and longitudinal change rates inJournal of neurology, neurosurgery, and psychiatry · 2021Article
- Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing.Diagnostics (Basel, Switzerland) · 2021Review
- Unravelling the clinical spectrum and the role of repeat length inJournal of neurology, neurosurgery, and psychiatry · 2021Review
- Neurofilaments as Emerging Biomarkers of Neuroaxonal Damage to Differentiate Behavioral Frontotemporal Dementia from Primary Psychiatric Disorders: A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes.Neurocase · 2021Article
35 more citing papers are in PubMed but not listed here.
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21 authors.
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Abstract
backgroundSome patients meeting behavioural variant frontotemporal dementia (bvFTD) diagnostic criteria progress slowly and plateau at mild symptom severity. Such patients have mild neuropsychological and functional impairments, lack characteristic bvFTD brain atrophy and have thus been referred to as bvFTD 'phenocopies' or slowly progressive (bvFTD-SP). The few patients with bvFTD-SP that have been studied at autopsy have demonstrated no evidence of FTD pathology, suggesting that bvFTD-SP is neuropathologically distinct from other forms of FTD. Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described.
methods384 patients with an FTD clinical spectrum and Alzheimer's disease diagnoses were screened for C9ORF72 expansion. Two bvFTD-SP mutation carriers were identified. Neuropsychological and functional data, as well as brain atrophy patterns, assessed using voxel based morphometry (VBM), were compared with 44 patients with sporadic bvFTD and 85 healthy controls.
resultsBoth patients were aged 48 years at baseline and met possible bvFTD criteria. In the first patient, VBM revealed thalamic and posterior insula atrophy. Over 7 years, his neuropsychological performance and brain atrophy remained stable. In the second patient, VBM revealed cortical atrophy with subtle frontal and insular volume loss. Over 2 years, her neuropsychological and functional scores as well as brain atrophy remained stable.
conclusionsC9ORF72 mutations can present with a bvFTD-SP phenotype. Some bvFTD-SP patients may have neurodegenerative pathology, and C9ORF72 mutations should be considered in patients with bvFTD-SP and a family history of dementia or motor neuron disease.
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