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The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families Publisher Pubmed



Hashemi N1 ; Abadi RNS2 ; Alavi A3 ; Rohani M4 ; Ghasemi A3 ; Tavasoli AR5, 6
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Authors Affiliations
  1. 1. Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  2. 2. School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  3. 3. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  4. 4. Department of Neurology, School of Medicine, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
  5. 5. Pediatric Neurology Division, Children’s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States

Source: Neurological Sciences Published:2023


Abstract

Background: NBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation in the basal ganglia. The fatty acid hydroxylase-associated neurodegeneration, or FAHN, is one of the uncommon subtypes of NBIAs, associated with inherited autosomal recessive mutations in gene coding the membrane-bound fatty acid 2 hydroxylase (FA2H) enzyme. Cases: Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing. Conclusion: FAHN is an uncommon variant of NBIA that may manifest as spastic paraparesis without signs of iron buildup on brain imaging. As a result, it should be taken into account while making a differential diagnosis of the hereditary spastic paraplegia (HSP) syndrome, especially in individuals who lack iron deposits. © 2023, Fondazione Societa Italiana di Neurologia.
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