Abstract
Primary familial brain calcification (PFBC) is a rare disorder that can manifest with a wide spectrum of motor, cognitive, and psychiatric symptoms or even remain asymptomatic. Alzheimer disease (AD) is a common condition that typically starts as a progressive amnestic disorder and progresses to major cognitive impairment. Accurately attributing an etiology to cognitive impairment can sometimes be challenging, especially when multiple pathologies with potentially overlapping symptomatology contribute to the clinical phenotype. Here, we present the case of two patients with autosomal dominant PFBC and non-monogenic AD. Cerebrospinal fluid (CSF) biomarker analysis combined with genetic testing permitted the dual diagnosis. We emphasize the importance of thoroughly characterizing the patient’s phenotype at onset and during the follow-up. Particular attention is placed on psychiatric symptoms given that both patients had a history of mood disorder, a frequent condition in the general population and in neurological diseases. We also discuss and challenge the paradigm of seeking a single diagnosis explaining all symptoms, remembering the possibility of a rare disease co-occurring with a common one.
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Data Availability
The data supporting the findings of this case report are available upon reasonable request to the corresponding author. To uphold patient privacy and confidentiality, we have omitted patient-identifying information from this publication. Contact the corresponding author at gaelnicolas@hotmail.com to discuss the data sharing process.
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All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by A.T., A.M and G.N. The first draft of the manuscript was written by A.T. and all authors reviewed and commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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Timmi, A., Morin, A., Guillin, O. et al. One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer’s Disease. J Mol Neurosci 74, 2 (2024). https://doi.org/10.1007/s12031-023-02184-1
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DOI: https://doi.org/10.1007/s12031-023-02184-1