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


Gultekin M., Tufekcioglu Z., BAYDEMİR R.

NEUROCASE, cilt.28, ss.107-109, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1080/13554794.2022.2038635
  • Dergi Adı: NEUROCASE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, CINAHL, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.107-109
  • Anahtar Kelimeler: Kufs disease, lipofuscinoses, frontotemporal dementia, cognition, parkinsonism
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.