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Erschienen in:
06.07.2023 | Original Article
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families
Erschienen in: Neurological Sciences | Ausgabe 12/2023
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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.