Session Information
Date: Monday, June 20, 2016
Session Title: Parkinsonism, MSA, PSP (secondary and parkinsonism-plus)
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To provide a systematic clinical characterisation of C9orf72-associated parkinsonism.
Background: While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS), an increasing number of reports suggests that the primary phenotype of C9orf72 patients may also include movement disorders.
Methods: We report a C9orf72 expansion carrier presenting with a clinical syndrome of progressive supranuclear palsy (PSP), pronounced mesencephalic atrophy on MRI and PSP-characteristic electrooculography findings. Moreover, we systematically review all previous reports on C9orf72 patients with Parkinsonian features. Review of 28 reports revealed 45 C9orf72-positive patients with hypokinesia, rigidity and/or resting tremor.
Results: C9orf72-associated parkinsonism predominantly consisted in a hypokinetic-rigid syndrome without resting tremor (61 %), with both asymmetric (59 %) and symmetric (41 %) distributions. Additional features included upper motor neuron signs (60 %), lower motor neuron signs (36 %), cognitive dysfunction (85 %), behaviour and/or personality change (55 %) and psychiatric symptoms (29 %). Vertical supranuclear gaze palsy was reported in three further cases and cerebellar dysfunction in four cases. Family history frequently yielded evidence of ALS (31 %) and FTD (21 %).
Conclusions: Atypical parkinsonism is a recurrent phenotypic manifestation of C9orf72 expansions. It occurs as part of a broad spectrum of C9orf72-related multi-system neurodegeneration, which can include basal ganglia, mesencephalic and cerebellar dysfunction. C9orf72 genotyping should be considered in those patients with atypical parkinsonism who present with a family history of ALS or FTD, upper or lower motor neuron signs and/or cognitive dysfunction with pronounced frontotemporal impairment.
To cite this abstract in AMA style:
C. Wilke, J.K. Pomper, S. Biskup, C. Puskás, D. Berg, M. Synofzik. Atypical parkinsonism in C9orf72 expansions: A case report and systematic review of 45 cases from the literature [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/atypical-parkinsonism-in-c9orf72-expansions-a-case-report-and-systematic-review-of-45-cases-from-the-literature/. Accessed June 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-parkinsonism-in-c9orf72-expansions-a-case-report-and-systematic-review-of-45-cases-from-the-literature/