Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
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Hashemi Narges, Abadi Reza Nejad Shahrokh, Alavi Afagh, Rohani Mohammad, Ghasemi Aida, Tavasoli Ali Reza
Аннотация
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.
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.