The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.

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.

• Authors: Narges Hashemi, Reza Nejad Shahrokh Abadi, Afagh Alavi, Mohammad Rohani, Aida Ghasemi, Ali Reza Tavasoli
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 44 Issue 12 Pg. 4359-4362 (Dec 2023) ISSN: 1590-3478 [Electronic] Italy
• PMID: 37410270 (Publication Type: Journal Article)
• Copyright: © 2023. Fondazione Società Italiana di Neurologia.

Chemical References

• Iron
• fatty acid alpha-hydroxylase

Topics

• Humans
• Brain (diagnostic imaging)
• Heredodegenerative Disorders, Nervous System (genetics)
• Iran
• Iron
• Mutation (genetics)
• Pantothenate Kinase-Associated Neurodegeneration (genetics)
• Spastic Paraplegia, Hereditary (diagnostic imaging, genetics)