Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion
Abstract
It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected.
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C9orf72 expansion mutations are associated with ALS/FTLD and also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome.
“For instance, C9orf72 expansion mutations are associated not only with ALS/FTLD, but also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome, reinforcing the imperfect connection between clinical and molecular phenotypes and emphasizing the need for molecular diagnostics [155–164].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [162]
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- Authors
- Luigetti, M., Quaranta, D., Conte, A., Piccininni, C., Lattante, S., Romano, A., Silvestri, G., Zollino, M., & Sabatelli, M.
- Affiliations
- Università Cattolica del Sacro Cuore (IT)
- Corresponding author
- Luigetti, Marco
- ORCID
- Venue
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Publisher
- Informa UK Limited
- Published
- 2012-06-18
- Volume
- 14
- Issue
- 1
- Pages
- 66-69
- ISSN
- 2167-8421 (ISSN-L)
- 2167-9223
- OpenAlex
- W2108886029
- Cited by
- 15
- References
- 13
- Citations by year
- 2021: 1 · 2019: 1 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 4 · 2013: 2 · 2012: 1
- FWCI
- 1.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (publishedVersion)
- PubMed (publishedVersion)
- AIRUS (submittedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- C9orf72, hexanucleotide repeat expansion, frontotemporal dementia, behavioral variant frontotemporal dementia, parkinsonism, amyotrophic lateral sclerosis, lower motor neuron involvement, genotype-phenotype correlation, repeat expansion
- MeSH terms
- Aged, Amyotrophic Lateral Sclerosis, Female, Humans, Muscular Atrophy, Spinal, Parkinson Disease, Genetic Predisposition to Disease, DNA Repeat Expansion, Frontotemporal Dementia
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