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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
Authors

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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