The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families

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 AR^{5, 6}

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1. Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
2. School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
3. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
4. Department of Neurology, School of Medicine, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
5. Pediatric Neurology Division, Childrenâ€™s Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
6. Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States

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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Experts (# of related papers)

Ali Reza Tavasoli (1)

Style	Citing Format
MLA	Hashemi N, et al.. "The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families." Neurological Sciences, vol. 44, no. 12, 2023, pp. 4359-4362.
APA	Hashemi N, Abadi RNS, Alavi A, Rohani M, Ghasemi A, Tavasoli AR (2023). The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families. Neurological Sciences, 44(12), 4359-4362.
Chicago	Hashemi N, Abadi RNS, Alavi A, Rohani M, Ghasemi A, Tavasoli AR. "The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families." Neurological Sciences 44, no. 12 (2023): 4359-4362.
Harvard	Hashemi N et al. (2023) 'The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families', Neurological Sciences, 44(12), pp. 4359-4362.
Vancouver	Hashemi N, Abadi RNS, Alavi A, Rohani M, Ghasemi A, Tavasoli AR. The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families. Neurological Sciences. 2023;44(12):4359-4362.
BibTex	@article{ author = {Hashemi N and Abadi RNS and Alavi A and Rohani M and Ghasemi A and Tavasoli AR}, title = {The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families}, journal = {Neurological Sciences}, volume = {44}, number = {12}, pages = {4359-4362}, year = {2023} }
RIS	TY - JOUR AU - Hashemi N AU - Abadi RNS AU - Alavi A AU - Rohani M AU - Ghasemi A AU - Tavasoli AR TI - The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families JO - Neurological Sciences VL - 44 IS - 12 SP - 4359 EP - 4362 PY - 2023 ER -

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