Description:
<jats:p>Mutations in the F-box only protein 7 (<i>FBXO7</i>) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel <i>FBXO7</i> mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability. The bilateral uptake by dopamine transporters was nearly abolished, as determined by N-(3-[18F]fluoropropyl)- 2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography (18F-FP-CIT PET). Next-generation sequencing revealed a heterozygous c.1066_1069delTCTG (p.Ser356ArgfsTer56) frameshift variant and a heterozygous c.80G>A (p.Arg27His) missense variant of the <i>FBXO7</i> gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of <i>FBXO7</i> mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with <i>FBXO7</i> mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.</jats:p>