title: Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
abstract: Young onset dementias present significant diagnostic challenges. 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.
authors: a Department of Neurology , University Hospitals Case Medical Center , Beachwood , OH , USA.
authors: Ethan
authors: E
authors: Gore
authors: b Departments of Neurology and Psychiatry , University Hospitals Case Medical Center , 3619 Park East Drive, Beachwood , OH , USA.
authors: Brian S
authors: BS
authors: Appleby
authors: c Department of Pathology , University Hospitals Case Medical Center , Cleveland , OH , USA.
authors: Mark L
authors: ML
authors: Cohen
authors: d Departments of Genetics and Genome Sciences, Pediatrics, and Neurology , University Hospitals Case Medical Center , Cleveland , OH , USA.
authors: Suzanne D
authors: SD
authors: DeBrosse
authors: e Cleveland Clinic Lou Ruvo Center for Brain Health , Cleveland , OH , USA.
authors: James B
authors: JB
authors: Leverenz
authors: f Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
authors: Bruce L
authors: BL
authors: Miller
authors: g Department of Pathology , Case Western Reserve University , Cleveland , OH , USA.
authors: Sandra L
authors: SL
authors: Siedlak
authors: g Department of Pathology , Case Western Reserve University , Cleveland , OH , USA.
authors: Xiongwei
authors: X
authors: Zhu
authors: a Department of Neurology , University Hospitals Case Medical Center , Beachwood , OH , USA.
authors: Alan J
authors: AJ
authors: Lerner
mesh_terms: D000328:Adult; D005192:Family Health; D005820:Genetic Testing; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D049268:Positron-Emission Tomography
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins
keywords: Lewy body; Mitochondrial membrane protein-associatedneurodegeneration (MPAN); Parkinsonism; neurodegeneration with brain iron accumulation (NBIA); whole exome sequencing