Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
Neurocase
; 22(5): 476-483, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-27801611
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Neurodegenerativas
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Proteínas Mitocondriales
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Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
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Humans
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Male
Idioma:
En
Año:
2016
Tipo del documento:
Article