PMC5315209_01
PMC5315209_02
Family tree of the AD patient with R62C mutation.. Notes: Family members refused the genetic tests and declined to provide detailed information on their age. However, none of them presented any type of dementia symptoms.. Abbreviation: AD, Alzheimer's disease.
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However, his 14-year-old daughter was mentally handicapped (Figure 1).
Imaging data of the patient with PSEN2 R62C.. Notes: (A) MRI data: mild cortical atrophy was present, but without lesions. (B) SPECT data: hypoperfusion was observed in frontal, limbic, and temporal brain areas.. Abbreviations: MRI, magnetic resonance imaging; SPECT, single-photon emission computed tomography.
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Brain MRI revealed mild cortical atrophy without any ischemic change or other lesions (Figure 2A). Brain SPECT showed moderate hypoperfusion in the frontal, limbic, and temporal areas (Figure 2B).
Clock drawing test.. Note: The contour and time setting are incorrect in the task of clock drawing.
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The delayed word recall score was 1 out of 3, and he scored 1 out of 3 in the task of clock drawing (Figure 3).