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31.08.2023 | Original Article

Olfactory status in neurodegeneration with brain iron accumulation disorders

verfasst von: Elahe Amini, Mohammad Rohani, Maryam Jalessi, Zahra Azad, Franco Valzania, Francesco Cavallieri, Mohammad Farhadi, Zeinab Gholibeigian

Erschienen in: Neurological Sciences | Ausgabe 2/2024

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Abstract

Background

Olfactory dysfunction has been suggested as a diagnostic and discriminative biomarker in some neurodegenerative disorders. However, there are few studies regarding the olfactory status in rare diseases including neurodegeneration with brain iron accumulation (NBIA) disorders.

Methods

Genetically-confirmed NBIA patients were enrolled. Neurological and cognitive examinations were conducted according to the Pantothenate Kinase-Associated Neurodegeneration-Disease Rating Scale (PKAN-DRS) and the Mini-Mental State Examination (MMSE) questionnaire, respectively. Olfaction was assessed in three domains of odor threshold (OT), odor discrimination (OD), odor identification (OI), and total sum (TDI) score by the Sniffin’ Sticks test. The olfactory scores were compared to a control group and a normative data set.

Results

Thirty-seven patients, including 22 PKAN, 6 Kufor Rakeb syndrome, 4 Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), 5 cases of other 4 subtypes, and 37 controls were enrolled. The mean PKAN-DRS score was 51.83±24.93. Sixteen patients (55.2%) had normal cognition based on MMSE. NBIA patients had significantly lower olfactory scores compared to the controls in TDI and all three subtests, and 60% of them were hyposmic according to the normative data. Including only the cognitively-normal patients, still, OI and TDI scores were significantly lower compared to the controls. The phospholipase A2-Associated Neurodegeneration (PLAN) and MPAN patients had a significantly lower OI score compared to the cognitively-matched PKAN patients.

Conclusion

Olfactory impairment as a common finding in various subtypes of NBIA disorder can potentially be considered a discriminative biomarker. Better OI in PKAN compared to PLAN and MPAN patients may be related to the different underlying pathologies.

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Titel: Olfactory status in neurodegeneration with brain iron accumulation disorders
verfasst von: Elahe Amini
Mohammad Rohani
Maryam Jalessi
Zahra Azad
Franco Valzania
Francesco Cavallieri
Mohammad Farhadi
Zeinab Gholibeigian
Publikationsdatum: 31.08.2023
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 2/2024
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07037-8

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