J Mov Disord.  2022 Sep;15(3):269-272. 10.14802/jmd.22006.

Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation

Affiliations
  • 1Department of Neurology, Chungnam National University Sejong Hospital, Sejong, Korea
  • 2Department of Laboratory Medicine, Chungnam National University Hospital, Chungnam National University, Daejeon, Korea
  • 3Department of Nuclear Medicine, Chungnam National University Sejong Hospital, Sejong, Korea
  • 4Department of Neurology, Chungnam National University College of Medicine, Daejeon, Korea

Abstract

Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 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 FBXO7 gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of FBXO7 mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.

Keyword

Dopamine transporter; mutation; Genetic parkinsonism; PET
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