Vol 58, No 2 (2024)
Letter to the Editors
Published online: 2024-01-17

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PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?

Isidora Semnic1, Tamara Ristic2, Katarina Koprivsek3
Pubmed: 38230758
Neurol Neurochir Pol 2024;58(2):207-209.

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References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.



Neurologia i Neurochirurgia Polska