open access
PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?
, 2, 3
Affiliations- Medical Faculty of Novi Sad, Clinical Centre of Vojvodina, Novi Sad, Serbia
- Child Neurology Department, Institute for Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia
- Radiology Department, Institute for Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia
open access
Abstract
Abstract
Keywords
PNKP, AOA4, MCSZ
About this articleTitle
PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
207-209
Published online
2024-01-17
Page views
170
Article views/downloads
115
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2024;58(2):207-209.
Keywords
PNKP
AOA4
MCSZ
Authors
Isidora Semnic
Tamara Ristic
Katarina Koprivsek
References (5)- Bras J, Alonso I, Barbot C, et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet. 2015; 96(3): 474–479.
- Kalasova I, Hailstone R, Bublitz J, et al. Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. Nucleic Acids Res. 2020; 48(12): 6672–6684.
- Shen J, Gilmore EC, Marshall CA, et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010; 42(3): 245–249.
- Poulton C, Oegema R, Heijsman D, et al. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013; 14(1): 43–51.
- Rudenskaya GE, Marakhonov AV, Shchagina OA, et al. Ataxia with Oculomotor Apraxia Type 4 with Common "Portuguese" and Novel Mutations in Two Belarusian Families. J Pediatr Genet. 2019; 8(2): 58–62.
