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https://doi.org/10.22364/lmahc.fd.24.03 | 31-38 | PDF

Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Associated with C9orf72 Gene Mutation: Case Report and Literature Review

Greta Pšemeneckienė, Justina Valinčiūtė, Miglė Viliušytė
​​​​​​​Lithuanian University of Health Sciences

Timely differential diagnosis of neurodegenerative disorders remains a clinical challenge. The cognitive profile and other clinical symptoms are often nonspecific, overlapping, and may occur in various pathologies. Even advanced diagnostic methods (imaging and cerebrospinal fluid biomarkers) are sometimes not sufficient to differentiate frontotemporal degeneration from Alzheimer’s disease. Genetic counselling and testing is becoming increasingly important in clinical practice, but is still limited due to cost and late results. The presented clinical case illustrates that the accurate description of clinical signs and symptoms, evaluation of anamnesis data, interpretation of the course of the disease, monitoring of the cognitive and neurological status, remains an important, perhaps even a key part of the diagnostic process of neurodegenerative dementias.

Keywords: cognitive impairment, differential diagnosis, C9orf72 gene mutation

From: Balode, Ineta; Lele-Rozentāle, Dzintra; Priede, Zanda (compilers and scientific editors). Linguistic and Medical Aspects in Health Care. Focus on Dementia. Riga: University of Latvia Press, 2024.