The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
FAHN
Fatty acid hydroxylase-associated neurodegeneration
NBIA
Neurodegeneration with brain iron accumulation
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
06
01
2023
accepted:
26
06
2023
medline:
14
11
2023
pubmed:
6
7
2023
entrez:
6
7
2023
Statut:
ppublish
Résumé
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. Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing. 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.
Sections du résumé
BACKGROUND
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
METHODS
Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing.
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 37410270
doi: 10.1007/s10072-023-06932-4
pii: 10.1007/s10072-023-06932-4
doi:
Substances chimiques
Iron
E1UOL152H7
fatty acid alpha-hydroxylase
EC 1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
4359-4362Informations de copyright
© 2023. Fondazione Società Italiana di Neurologia.
Références
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