Cited by 121Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment ResearchParkinson's Disease Mechanisms and Treatments

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Parkinsonism, movement disorders and genetics in frontotemporal dementia

Baizabal-Carvallo, José Fidel, Jankovic, Joseph·2016·Nature Reviews Neurology

DOI 10.1038/nrneurol.2016.14

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Abstract

Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD. Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations. Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS). Expansions in the C9orf72 gene are most frequently associated with familial FTD, typically combined with motor neuron disease, but other manifestations, such as symmetrical parkinsonism, CBS and multiple system atrophy-like presentations, have been described in patients with these mutations. Less common gene mutations, such as those in TARDBP, CHMP2B, VCP, FUS and TREM2, can also present as atypical parkinsonism. The most common hyperkinetic movement disorders in FTD are motor and vocal stereotypies, which have been observed in up to 78% of patients with autopsy-proven FTD. Other hyperkinetic movements, such as chorea, orofacial dyskinesias, myoclonus and dystonia, are also observed in some patients with FTD.

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Authors: Baizabal-Carvallo, J. F., & Jankovic, J.
Affiliations: Baylor College of Medicine (US)
Corresponding author: Jankovic, Joseph
ORCID: Jankovic, Joseph
Venue: Nature Reviews Neurology
Publisher: Springer Science and Business Media LLC
Published: 2016-02-19
Volume: 12
Issue: 3
Pages: 175-185
ISSN: 1759-4758 (ISSN-L)
1759-4766
DOI: 10.1038/nrneurol.2016.14
OpenAlex: W2275046571
Cited by: 121
References: 162
Citations by year: 2026: 7 · 2025: 9 · 2024: 5 · 2023: 7 · 2022: 16 · 2021: 15 · 2020: 15 · 2019: 13 · 2018: 11 · 2017: 16 · 2016: 7
FWCI: 2.18
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords: frontotemporal dementia, parkinsonism, movement disorders, genetic mutations, C9orf72, progranulin, MAPT, tau protein, corticobasal syndrome, Richardson syndrome, multiple system atrophy, hyperkinetic movement disorders, stereotypy, chorea, dystonia, myoclonus, orofacial dyskinesia, genotype-phenotype correlation, neurodegeneration
MeSH terms: Animals, Atrophy, Brain, Humans, Movement Disorders, Parkinsonian Disorders, Frontotemporal Dementia

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Parkinsonism, movement disorders and genetics in frontotemporal dementia

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