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Basic Science and Pathogenesis.

Joong-Seok Kim1, Hyuk-Je Lee1, Bora Yoon1

  • 1The Catholic University of Korea, Seoul, NA, Korea, Republic of (South).

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Summary
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This study reports a rare case of cognitive decline in a 75-year-old man with a novel double mutation in PSEN2 and SLC20A2 genes. This finding advances understanding of genetic causes for dementia and brain calcification.

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Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Autosomal dominant Alzheimer's disease (ADAD) and primary familial brain calcification (PFBC) are rare genetic disorders causing cognitive decline.
  • A 75-year-old male presented with memory impairment, exhibiting basal ganglia calcification, white matter hyperintensities, and amyloid deposition on brain imaging.

Purpose of the Study:

  • To investigate the clinical, radiological, and genetic underpinnings of cognitive decline in a patient with unusual brain imaging findings.
  • To identify genetic variants potentially contributing to the observed neurological presentation.

Main Methods:

  • Neuroimaging included 18F-Florbetaben PET/CT for amyloid assessment and MRI for white matter changes and microbleeds.
  • Standardized scales were used for imaging analysis, with PET SUVR values converted to the Centiloid scale.
  • Next-generation sequencing of 1,097 dementia-related genes was performed to identify genetic variants.

Main Results:

  • Significant amyloid plaque deposition (Centiloid 98.3) and dense mineral deposits were observed, suggestive of PFBC or hyperparathyroidism.
  • MRI revealed medial temporal lobe atrophy, severe white matter hyperintensities, and cerebral microbleeds.
  • Genetic analysis identified a likely pathogenic SLC20A2 mutation and a PSEN2 variant of unknown significance.

Conclusions:

  • This case represents the first documented instance of a combined PSEN2 and SLC20A2 mutation.
  • The identified genetic variants may be associated with the patient's cognitive decline and brain calcification.