Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)
作者： Ethan Gore , Brian S. Appleby , Mark L. Cohen , Suzanne D. DeBrosse , James B. Leverenz
DOI: 10.1080/13554794.2016.1247458
关键词:
摘要: Young onset dementias present significant diagnostic challenges. We the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism. Brain MRI showed bilateral symmetric gradient echo hypointensities in globi pallidi substantiae nigrae. Left cortical hypometabolism was seen on brain fluorodeoxyglucose positron emission tomography. A biopsy revealed high Lewy body burden. Genetic testing homozygous p.T11M mutation C19orf12 gene consistent mitochondrial membrane protein-associated neurodegeneration. This is oldest age MPAN reported.
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