Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

We present 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 the globi pallidi and substantiae nigrae. Left cortical hypometabolism was seen on brain fluorodeoxyglucose positron emission tomography. A cortical brain biopsy revealed a high Lewy body burden. Genetic testing revealed a homozygous p.T11M mutation in the C19orf12 gene consistent with mitochondrial membrane protein-associated neurodegeneration. This is the oldest onset age of MPAN reported. PMID: 27801611 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/27801611?dopt=Abstract

Source: Neurocase - October 31, 2016 Category: Neurology Authors: Gore E, Appleby BS, Cohen ML, DeBrosse SD, Leverenz JB, Miller BL, Siedlak SL, Zhu X, Lerner AJ Tags: Neurocase Source Type: research