Journals / Türk Nöroloji Dergisi / 2021 / Cilt: 27 - Sayı: 4

Mitochondrial Membrane Protein-associated Neurodegeneration: Two Adult Cases with Different Clinical Presentation

Mitokondriyal Membran Protein-ilişkili Nörodejenerasyon; Farklı Klinik Prezentasyonlu İki Yetişkin Olgu

Pages
439–441
Publication Date
2022-11-06
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Thus, this case report aimed to draw attention to this rarely seen disease.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Neurodegeneration with brain iron accumulation is a clinically and genetically heterogeneous group of diseases.
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Key Findings & Data:Mitochondrial membrane protein-associated neurodegeneration is a rare subtype of this disease spectrum.
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Conclusion & Impact:Thus, this case report aimed to draw attention to this rarely seen disease.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Neurodegeneration with brain iron accumulation is a clinically and genetically heterogeneous group of diseases. Mitochondrial membrane protein-associated neurodegeneration is a rare subtype of this disease spectrum. Thus, this case report aimed to draw attention to this rarely seen disease.

Özet

Beyin demir birikimiyle gelişen nörodejenerasyon, klinik ve genetik olarak heterojen bir hastalık grubudur. Mitokondriyel membran protein-ilişkili nörodejenerasyon bu hastalık spektrumunun nadir görülen bir subtipidir. Bu olgu sunumuyla, nadir görülen bu hastalığa dikkat çekmek istedik.

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Cite This Article

ULUDAĞ, B., KARASOY, H., AYKAÇ, Ş., KARAKAYA, H. (2022). Mitochondrial Membrane Protein-associated Neurodegeneration: Two Adult Cases with Different Clinical Presentation. Türk Nöroloji Dergisi, Cilt: 27 - Sayı: 4, 439–441. https://ajindex.com/articles/636618

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References (9)

  1. Dusek P, Skoloudik D, Roth J, et al. Mitochondrial membrane proteinassociated neurodegeneration: a case report and literature review. Neurocase 2018;24:161-165
  2. Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Ardinger HH, et al, (eds). GeneReviews(R). Seattle: University of Washington, 2014
  3. Selikhova M, Fedotova E, Wiethoff S, et al. A 30-year history of MPAN case from Russia. Clin Neurol Neurosurg 2017;159:111-113
  4. Olgiati S, Doğu O, Tufekcioglu Z, et al. The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN. Parkinsonism Relat Disord 2017;39:64-70
  5. Skowronska M, Kmiec T, Jurkiewicz E, et al. Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12. Parkinsonism Relat Disord 2017;39:71-76
  6. Deutschländer A, Konno T, Ross OA. Mitochondrial membrane proteinassociated neurodegeneration. Parkinsonism Relat Disord 2017;39:1-3
  7. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33:407-414
  8. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40
  9. Kim J, Liao YH, Ionita C, et al. Mitochondrial Membrane Protein- Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. Pediatr Neurol 2016;64:83-86.