Academic Journal
Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis
| العنوان: | Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis |
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| المؤلفون: | Romana Perkovic, Kristina Gotovac Jercic, Manuela Francic, David Ozretic, Fran Borovecki |
| المصدر: | Türk Nöroloji Dergisi, Vol 28, Iss 2, Pp 118-121 (2022) |
| بيانات النشر: | Galenos Yayinevi, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | mitochondrial protein associated neurodegeneration, neurodegeneration with brain iron accumulation, c19orf12, Medicine, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1309-2545 |
| Relation: | https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-26125&look4=; https://doaj.org/toc/1309-2545 |
| DOI: | 10.4274/tnd.2022.26125 |
| URL الوصول: | https://doaj.org/article/bceab3c0c1fd4d609cc87322286defbf |
| رقم الانضمام: | edsdoj.bceab3c0c1fd4d609cc87322286defbf |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 13092545 |
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| DOI: | 10.4274/tnd.2022.26125 |