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Review
. 2014 Sep;20(9):957-64.
doi: 10.1016/j.parkreldis.2014.06.004. Epub 2014 Jun 13.

Parkinsonian syndrome in familial frontotemporal dementia

Joanna Siuda  1 , Shinsuke Fujioka  2 , Zbigniew K Wszolek  3
Affiliations
Review

Parkinsonian syndrome in familial frontotemporal dementia

Joanna Siuda et al. Parkinsonism Relat Disord. 2014 Sep.

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.

Keywords: Autosomal dominant; Familial; Frontotemporal dementia; Genetics; Mutation; Parkinsonism.

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Conflict of interest statement

DISCLOSURES/CONFLICTS

JS is supported by the Stowarzyszenie na Rzecz Rozwoju Neurologii Wieku Podeszlego grant.

SF is supported by a gift from Carl Edward Bolch, Jr. and Susan Bass Bolch.

ZKW is partially supported by NIH/NINDS P50 NS072187, and a gift from Carl Edward Bolch, Jr. and Susan Bass Bolch.

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