Format

Send to

Choose Destination
Neurocase. 2016 Oct;22(5):476-483. Epub 2016 Nov 1.

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

Author information

1
a Department of Neurology , University Hospitals Case Medical Center , Beachwood , OH , USA.
2
b Departments of Neurology and Psychiatry , University Hospitals Case Medical Center , 3619 Park East Drive, Beachwood , OH , USA.
3
c Department of Pathology , University Hospitals Case Medical Center , Cleveland , OH , USA.
4
d Departments of Genetics and Genome Sciences, Pediatrics, and Neurology , University Hospitals Case Medical Center , Cleveland , OH , USA.
5
e Cleveland Clinic Lou Ruvo Center for Brain Health , Cleveland , OH , USA.
6
f Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
7
g Department of Pathology , Case Western Reserve University , Cleveland , OH , USA.

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.

KEYWORDS:

Lewy body; Mitochondrial membrane protein-associatedneurodegeneration (MPAN); Parkinsonism; neurodegeneration with brain iron accumulation (NBIA); whole exome sequencing

PMID:
27801611
PMCID:
PMC5568540
DOI:
10.1080/13554794.2016.1247458
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center