Pregled bibliografske jedinice broj: 1211789
Juvenile-onset Mitochondrial-membrane Protein- associated Neurodegeneration with Late Diagnosis
Juvenile-onset Mitochondrial-membrane Protein- associated Neurodegeneration with Late Diagnosis // Turkish Journal Of Neurology, 28 (2022), 2; 118-121 doi:10.4274/tnd.2022.26125 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 1211789 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Juvenile-onset Mitochondrial-membrane Protein-
associated Neurodegeneration with Late Diagnosis
Autori
Perković, Romana ; Gotovac Jerčić, Kristina ; Frančić, Manuela ; Ozretić, David ; Borovečki, Fran
Izvornik
Turkish Journal Of Neurology (1301-062X) 28
(2022), 2;
118-121
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Mitochondrial protein associated neurodegeneration, neurodegeneration with brain iron accumulation, C19orf12
Sažetak
Neurodegeneration with brain iron accumulation (NBIA) encompasses a number of heritable disorders affecting children and adults characterized by diverse clinical manifestations and brain iron deposition detected on magnetic resonance imaging (MRI). The most frequent NBIA subtypes are pantothenate kinase-associated neurodegeneration, phospholipase A2-associated neurodegeneration, fatty acid-2 hydroxylase- associated neurodegeneration and mitochondrial- membrane proteinassociated neurodegeneration (MPAN). Here, we report a male patient presenting with optic atrophy, progressive cognitive and movement impairment, bilateral hypointensity of the basal ganglia on T2-weighted MRI and proven mutation for MPAN. The NBIA disorders can remain undiagnosed for 3 to 30 years. In children developing optic atrophy, NBIA should be taken into consideration.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb
