Journal Article (Review Article)

DZNE-2025-01286

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.

Şahin, E. ; Samanci, B. ; Yalçın Çakmaklı, G. ; Lohmann, E.DZNE* ; Güven, G. ; Gökalp, E. E. ; Gündüz, A. ; Başak, A. N. ; Ertan, S. ; Elibol, B. ; Bilgiç, B. ; Hanağası, H.

2025
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mdc3.70269

Abstract: Early onset parkinsonism caused by F-box only protein7 (FBXO7) pathogenic variants is a rare autosomal recessive disorder presenting with a combination of parkinsonism, pyramidal signs, dystonia, cognitive impairment, and psychiatric features. Although previous case reports have mentioned neuroimaging findings, there is no comprehensive study characterizing the radiological spectrum of FBXO7 pathogenic variants.Ten patients from seven families followed at two tertiary centers in Turkey were included. The cohort included six males and four females with a mean onset age of 21.1 years. Frontal atrophy was the most common MRI finding, followed by global cortical and cerebellar atrophy. One patient showed iron accumulation in the pallidum, and two exhibited severe dopaminergic deficit on DaTSCAN.Pathogenic variants in the FBXO7 gene have been identified in diverse populations over the past 15 years, contributing to a broader understanding of clinical and radiological spectrum. Global cortical atrophy has emerged as the most frequently reported neuroimaging finding in FBXO7-related parkinsonism.FBXO7 pathogenic variants are associated with heterogeneous neuroimaging findings. Frontal and global cortical atrophy are common, while iron deposition and DaTSCAN abnormalities offer additional diagnostic clues. Larger, longitudinal studies are necessary to establish specific imaging biomarkers for FBXO7-related neurodegeneration.

Keyword(s): Humans (MeSH) ; Male (MeSH) ; Female (MeSH) ; Parkinsonian Disorders: genetics (MeSH) ; Parkinsonian Disorders: diagnostic imaging (MeSH) ; Parkinsonian Disorders: pathology (MeSH) ; F-Box Proteins: genetics (MeSH) ; Adult (MeSH) ; Neuroimaging (MeSH) ; Young Adult (MeSH) ; Magnetic Resonance Imaging (MeSH) ; Adolescent (MeSH) ; Age of Onset (MeSH) ; Atrophy (MeSH) ; Brain: diagnostic imaging (MeSH) ; Brain: pathology (MeSH) ; FBXO7 ; early‐onset ; genetic ; neuroimaging ; parkinsonism ; FBXO7 protein, human ; F-Box Proteins

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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