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Neurological Sciences

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06-07-2023 | Spastic Paraplegia | Original Article

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

Authors: Narges Hashemi, Reza Nejad Shahrokh Abadi, Afagh Alavi, Mohammad Rohani, Aida Ghasemi, Ali Reza Tavasoli

Published in: Neurological Sciences | Issue 12/2023

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.

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Title: The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families
Authors: Narges Hashemi
Reza Nejad Shahrokh Abadi
Afagh Alavi
Mohammad Rohani
Aida Ghasemi
Ali Reza Tavasoli
Publication date: 06-07-2023
Publisher: Springer International Publishing
Keywords: Spastic Paraplegia
Cranial MRI
Published in: Neurological Sciences / Issue 12/2023
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-06932-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Cases

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Cases

Conclusion

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