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000282325 1001_ $$00000-0002-5792-2888$$aŞahin, Erdi$$b0
000282325 245__ $$aFBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.
000282325 260__ $$aNew York, NY$$bWiley$$c2025
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000282325 520__ $$aEarly 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.
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000282325 650_7 $$2Other$$aFBXO7
000282325 650_7 $$2Other$$aearly‐onset
000282325 650_7 $$2Other$$agenetic
000282325 650_7 $$2Other$$aneuroimaging
000282325 650_7 $$2Other$$aparkinsonism
000282325 650_7 $$2NLM Chemicals$$aFBXO7 protein, human
000282325 650_7 $$2NLM Chemicals$$aF-Box Proteins
000282325 650_2 $$2MeSH$$aHumans
000282325 650_2 $$2MeSH$$aMale
000282325 650_2 $$2MeSH$$aFemale
000282325 650_2 $$2MeSH$$aParkinsonian Disorders: genetics
000282325 650_2 $$2MeSH$$aParkinsonian Disorders: diagnostic imaging
000282325 650_2 $$2MeSH$$aParkinsonian Disorders: pathology
000282325 650_2 $$2MeSH$$aF-Box Proteins: genetics
000282325 650_2 $$2MeSH$$aAdult
000282325 650_2 $$2MeSH$$aNeuroimaging
000282325 650_2 $$2MeSH$$aYoung Adult
000282325 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000282325 650_2 $$2MeSH$$aAdolescent
000282325 650_2 $$2MeSH$$aAge of Onset
000282325 650_2 $$2MeSH$$aAtrophy
000282325 650_2 $$2MeSH$$aBrain: diagnostic imaging
000282325 650_2 $$2MeSH$$aBrain: pathology
000282325 7001_ $$aSamanci, Bedia$$b1
000282325 7001_ $$aYalçın Çakmaklı, Gül$$b2
000282325 7001_ $$0P:(DE-2719)2811891$$aLohmann, Ebba$$b3$$udzne
000282325 7001_ $$aGüven, Gamze$$b4
000282325 7001_ $$aGökalp, Ebru Erzurumluoğlu$$b5
000282325 7001_ $$aGündüz, Ayşegül$$b6
000282325 7001_ $$00000-0001-6977-2517$$aBaşak, Ayşe Nazlı$$b7
000282325 7001_ $$aErtan, Sibel$$b8
000282325 7001_ $$aElibol, Bülent$$b9
000282325 7001_ $$aBilgiç, Başar$$b10
000282325 7001_ $$aHanağası, Haşmet$$b11
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