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Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gore, Ethan; Appleby, Brian S; Cohen, Mark L; DeBrosse, Suzanne D; Leverenz, James B; Miller, Bruce L; Siedlak, Sandra L; Zhu, Xiongwei; Lerner, Alan J.
Afiliação
  • Gore E; a Department of Neurology , University Hospitals Case Medical Center , Beachwood , OH , USA.
  • Appleby BS; b Departments of Neurology and Psychiatry , University Hospitals Case Medical Center , 3619 Park East Drive, Beachwood , OH , USA.
  • Cohen ML; c Department of Pathology , University Hospitals Case Medical Center , Cleveland , OH , USA.
  • DeBrosse SD; d Departments of Genetics and Genome Sciences, Pediatrics, and Neurology , University Hospitals Case Medical Center , Cleveland , OH , USA.
  • Leverenz JB; e Cleveland Clinic Lou Ruvo Center for Brain Health , Cleveland , OH , USA.
  • Miller BL; f Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
  • Siedlak SL; g Department of Pathology , Case Western Reserve University , Cleveland , OH , USA.
  • Zhu X; g Department of Pathology , Case Western Reserve University , Cleveland , OH , USA.
  • Lerner AJ; a Department of Neurology , University Hospitals Case Medical Center , Beachwood , OH , USA.
Neurocase ; 22(5): 476-483, 2016 10.
Article em En | MEDLINE | ID: mdl-27801611
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article