Novel frameshift CTSF mutation causing kufs disease type B mimicking frontotemporal dementia-parkinsonism

Gultekin M., Tufekcioglu Z., BAYDEMİR R.

Neurocase, vol.28, no.1, pp.107-109, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1080/13554794.2022.2038635
  • Journal Name: Neurocase
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo
  • Page Numbers: pp.107-109
  • Keywords: Kufs disease, lipofuscinoses, frontotemporal dementia, cognition, parkinsonism
  • Kayseri University Affiliated: No


© 2022 Informa UK Limited, trading as Taylor & Francis Group.Adult-onset neuronal ceroid lipofuscinoses (ANCLs, Kufs disease-KD) are rare, inherited, progressive, neurodegenerative, lysosomal storage diseases. Mutations in cathepsin F (CTSF) were linked to KD type B. Conversely, Frontotemporal dementia (FTD) is the second most common type of presenile dementia and Parkinsonism is a mostly common accompanying feature. Due to pronounced behavioral, cognitive, and motor features in the patients with KD type B, mutations in CTSF may resemble FTD-parkinsonism. Here, we present a case of KD type B with a novel homozygous frameshift pathogenic variant (p.Gly439Alafs*36) in the Cathepsin F (CTSF) gene presenting behavioral changes, cognitive disturbances and parkinsonism with a family history mimicking FTD-parkinsonism.