ИСТИНА

Objective: To present the clinical case of Lewy body disease (LBD) with hexanucleotide repeat expansion in the C9orf72 gene. Methods: We screened female patient 61 y.o. with LBD phenotype and positive family history of behavioral disturbances in her twin-brother, young brother and father. Repeat primed PCR was used for detecting of C9orf72 repeat expansion. Results: The main clinical presentations of this patient are parkinsonism and cognition fluctuations. Cognition fluctuations include episodes of apathy and severe speech disturbances when the patient can’t help herself. These episodes may continue from several days up to several weeks. Sometimes she can return to her approximately normal stage, but emotional instability, anxiety and dysphoria are present. Parkinsonian syndrome has typical signs like asymmetrical muscle rigidity, rest tremor and bradykinesia with good response on the levodopa (375 mg per day). It is known that parkinsonism developed 3 year ago and was the first symptom of the disease, cognitive fluctuations developed 2 years ago. Brain MRI didn’t reveal any abnormalities. Conclusions: Our case of LBD phenotype with C9orf72 expansion could have a pure TDP43 pathology associated with C9orf72 mutation or coexisting TDP43- and Lewy body pathology. The presented rare case shows a complex non-linear relationship between phenotype, neuroimaging data, neuropathology and genetic causes. The ability to define certain pathology is of high importance due to future target therapeutic implementations and we need further investigations to get answer to this question during the life of patients.