Objective: To understand how clinical and biological features can help us define and explain the varying pathology that underlies corticobasal syndrome (CBS).

Background: Corticobasal degeneration (CBD) is a progressive neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia. The diagnosis of CBD is difficult due to the absence of specific biomarkers and the fact that many of the clinical features of CBD overlap with other neurodegenerative diseases. CBS is the classical clinical presentation of CBD but may also be seen in association with other tauopathies in the frontotemporal dementia spectrum as well as amyloid, TDP-43 and prion pathology.

Methods: We are conducting a multicenter prospective longitudinal and epidemiological and biomarker study of CBS/D. We aim to recruit at least 150 patients over 2 years. Patients will be recruited according to the Armstrong criteria for probable or possible CBS, and CBD. We aim to recruit patients attending specialist movement and cognitive disorder centres across Europe, and establish a European registry. Where possible, patients will be registered for brain donation. A full and systematic clinical history and examination with completion of motor and cognitive assessments using validated scales will be undertaken, with follow up at 1 year. Bloods samples will be taken for DNA and peripheral blood lymphocytes.

Results: 10 CBS cases have already been recruited. 6 of these meet the Armstrong criteria for probable CBD and 4 for possible CBD. Patients usually met criteria for possible but not probable CBD on the basis of the presence of progressive apraxia, rigidity/akinesia without limb myoclonus or limb dystonia. Mean age at onset was 63.7 years (SD 6.11). Mean age at study entry was 69.8 years (SD 7.9) with an average disease duration of 6.1 years (SD 4.0). The male to female ratio is 1:1. Average time to diagnosis from onset is 3.8 years (SD 3.3). 1 patient had CBD confirmed on brain biopsy. No patient has yet had an autopsy.

Conclusions: Accurate diagnosis and early detection of CBD and associated diseases has the potential to be of great benefit for the accurate targeting of disease modifying therapies. This study will facilitate the identification of diagnostic and pathological biomarkers, the development of pharmacological therapies and interventions in the treatment of CBD, and could offer a platform for future biomarker research and future clinical trials.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/defining-the-pathology-underlying-cortico-basal-syndrome-a-european-study/