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Cited by 96Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment ResearchParkinson's Disease Mechanisms and Treatments

Parkinsonian syndrome in familial frontotemporal dementia

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Siuda, Joanna, Fujioka, Shinsuke, Wszolek, Zbigniew K.·2014·Parkinsonism & Related Disorders
DOI 10.1016/j.parkreldis.2014.06.004PMC PMC4160731
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Abstract

Parkinsonism in frontotemporal dementia (FTD) was first described in families with mutations in the microtubule-associated protein tau (MAPT) and progranulin (PRGN) genes. Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP). The clinical presentation of patients with familial forms of FTD with parkinsonism is highly variable. The parkinsonism seen in FTD patients is usually characterized by akinetic-rigid syndrome and is mostly associated with the behavioral variant of FTD (bvFTD); however, some cases may present with classical Parkinson's disease. In other cases, atypical parkinsonism resembling progressive supranuclear palsy (PSP) or corticobasal syndrome (CBS) has also been described. Although rare, parkinsonism in FTD may coexist with motor neuron disease. Structural neuroimaging, which is crucial for the diagnosis of FTD, shows characteristic patterns of brain atrophy associated with specific mutations. Structural neuroimaging is not helpful in distinguishing among patients with parkinsonian features. Furthermore, dopaminergic imaging that shows nigrostriatal neurodegeneration in FTD with parkinsonism cannot discriminate parkinsonian syndromes that arise from different mutations. Generally, parkinsonism in FTD is levodopa unresponsive, but there have been cases where a temporary benefit has been reported, so dopaminergic treatment is worth trying, especially, when motor and non-motor manifestations can cause significant problems with daily functioning. In this review, we present an update on the clinical and genetic correlations of FTD with parkinsonism.

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  • When parkinsonism is prominent in bvFTD, mutations in MAPT tend to be more common than mutations in GRN or C9orf72 genes.

    “When prominent, mutations in the microtubule-associated protein tau (MAPT) tend to be more common than mutations in GRN or C9orf72 genes [29, 30].”

    From Diagnosing the frontal variant of Alzheimer’s disease: a clinician’s yellow brick road (2017) · cites this paper as [30]

    Section 2.1 describes MAPT-associated disease as sometimes parkinsonism-predominant, while section 2.2 says parkinsonism is a predominant manifestation in only a minority of PGRN (GRN) mutation cases. Section 2.3 also describes parkinsonism with C9ORF72 expansions, but the paper does not establish that MAPT mutations are more common than both alternatives specifically among people with prominent parkinsonism in bvFTD. Page numbers were not provided in our copy. (LLM, conf=0.82)

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  • In genetic cases of bvFTD, parkinsonism is relatively frequent.

    “In genetic cases of bvFTD, parkinsonism is relatively frequent (Snowden et al. , 2012; Siuda et al. , 2014).”

    From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Siuda et al., 2014

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References 86 · Cited by 96

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Authors
Siuda, J., Fujioka, S., & Wszolek, Z. K.
Affiliations
  • Medical University of Silesia (PL)
  • Mayo Clinic (US)
ORCID
Venue
Parkinsonism & Related Disorders
Publisher
Elsevier BV
Published
2014-09
Volume
20
Issue
9
Pages
957-964
ISSN
1353-8020 (ISSN-L)
DOI
10.1016/j.parkreldis.2014.06.004
PMC
PMC4160731
OpenAlex
W2014826630
Cited by
96
References
86
Citations by year
2026: 3 · 2025: 8 · 2024: 6 · 2023: 4 · 2022: 8 · 2021: 11 · 2020: 11 · 2019: 5 · 2018: 5 · 2017: 11 · 2016: 13 · 2015: 11
FWCI
1.60
Type
journal article
Language
en
Open access
Licence
Locations
  • Parkinsonism & Related Disorders (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of Neurological Disorders and Stroke (P50NS072187)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords
parkinsonism, frontotemporal dementia
MeSH terms
Animals, Humans, Microtubule-Associated Proteins, Mutation, tau Proteins, Genetic Predisposition to Disease, Parkinsonian Disorders, Frontotemporal Dementia

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