TY  - JOUR
AU  - Şahin, Erdi
AU  - Samanci, Bedia
AU  - Yalçın Çakmaklı, Gül
AU  - Lohmann, Ebba
AU  - Güven, Gamze
AU  - Gökalp, Ebru Erzurumluoğlu
AU  - Gündüz, Ayşegül
AU  - Başak, Ayşe Nazlı
AU  - Ertan, Sibel
AU  - Elibol, Bülent
AU  - Bilgiç, Başar
AU  - Hanağası, Haşmet
TI  - FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.
JO  - Movement disorders clinical practice
VL  - 12
IS  - 11
SN  - 2330-1619
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2025-01286
SP  - 1972 - 1980
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Male
KW  - Female
KW  - Parkinsonian Disorders: genetics
KW  - Parkinsonian Disorders: diagnostic imaging
KW  - Parkinsonian Disorders: pathology
KW  - F-Box Proteins: genetics
KW  - Adult
KW  - Neuroimaging
KW  - Young Adult
KW  - Magnetic Resonance Imaging
KW  - Adolescent
KW  - Age of Onset
KW  - Atrophy
KW  - Brain: diagnostic imaging
KW  - Brain: pathology
KW  - FBXO7 (Other)
KW  - early‐onset (Other)
KW  - genetic (Other)
KW  - neuroimaging (Other)
KW  - parkinsonism (Other)
KW  - FBXO7 protein, human (NLM Chemicals)
KW  - F-Box Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40740144
C2  - pmc:PMC12625086
DO  - DOI:10.1002/mdc3.70269
UR  - https://pub.dzne.de/record/282325
ER  -