Objective: To describe a patient with corticobasal syndrome (CBS) and biomarker evidence of multiple proteinopathies.

Background: CBS is a clinically heterogeneous syndrome caused by several different pathological processes. The diseases shown to underlie CBS include progressive supranuclear palsy, corticobasal degeneration, Alzheimer’s disease (AD), Lewy body dementia, and other rare conditions. We report a case of a CBS patient with biomarker evidence of Lewy body disease and AD co-pathology.

Method: Case Report: The patient was enrolled under a neurodegenerative disease research protocol.

Results: The patient is a 76-year-old, right-handed man of European ancestry who presented with a 9-year history of atypical parkinsonism and a family history of AD in his brother and unspecified dementia in his mother. At onset, he had balance impairment and parkinsonian gait. After 6 years, he began to experience dysautonomia and left lower extremity tremor unresponsive to levodopa. In the past 2 years, he developed cognitive symptoms of delusions and visuospatial difficulties. His exam was remarkable for axially predominant parkinsonism (bradykinesia, postural instability, bilateral jerky hand tremor, left more than right rigidity). He also had camptocormia, blepharospasm, upgaze limitation with diminished vertical optokinetic nystagmus, left neglect, left worse than right agraphesthesia and ideomotor apraxia, myoclonic jerks on the left side and trunk, left-sided hyperreflexia, paratonia and frontal release signs. Neuropsychological evaluation showed impairment across all cognitive domains. Speech and language testing showed decreased verbal fluency, anomia, and impaired auditory comprehension of complex commands. MRI showed global atrophy most pronounced in parietal lobes with preservation of midbrain volumes. CSF evaluations were notable for alpha-synuclein misfolding through cyclic amplification assay indicative of Lewy body disease and elevated total and phosphorylated-tau 181 with decreased beta-amyloid (1-42) consistent with AD pathology. A diagnosis of CBS due to Lewy body disease with AD co-pathology was established.

Conclusion: Biomarker research is a useful tool to drive diagnostic approaches and unravel the contribution of multiple pathogenic mechanisms in complex clinical phenotypes in neurodegenerative diseases, such as CBS. Utilizing proteinopathy biomarkers may have long-term implications in patient education and future disease-modifying therapies.

References: 1. Parmera JB, Rodriguez RD, Studart Neto A, Nitrini R, Brucki SMD. Corticobasal syndrome: A diagnostic conundrum. Dement Neuropsychol. 2016;10(4):267-275. doi:10.1590/s1980-5764-2016dn1004003

2. Koga S, Josephs KA, Aiba I, Yoshida M, Dickson DW. Neuropathology and emerging biomarkers in corticobasal syndrome. J Neurol Neurosurg Psychiatry. Published online June 13, 2022. doi:10.1136/jnnp-2021-328586

3. Kasanuki K, Josephs KA, Ferman TJ, et al. Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease [published correction appears in Neurology. 2018 Nov 20;91(21):986]. Neurology. 2018;91(3):e268-e279. doi:10.1212/WNL.0000000000005828

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