Skip to main content
SpringerLink
Log in

Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Data availability

The data that support the findings of this study are available from the corresponding author, upon reasonable request.

References

  1. Ramirez A, Heimbach A, Gründemann J et al (2006) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38:1184–1191. https://doi.org/10.1038/ng1884

    Article  CAS  PubMed  Google Scholar 

  2. Park JS, Blair NF, Sue CM (2015) The role of ATP13A2 in Parkinson’s disease: clinical phenotypes and molecular mechanisms. Mov Disord 30:770–779. https://doi.org/10.1002/mds.26243

    Article  CAS  PubMed  Google Scholar 

  3. Abbas MM, Govindappa ST, Sheerin UM, Bhatia KP, Muthane UB (2016) Exome sequencing identifies a novel homozygous missense ATP13A2 mutation. Mov Disord Clin Pract 4:132–135. https://doi.org/10.1002/mdc3.12353

    Article  PubMed  PubMed Central  Google Scholar 

  4. Podhajska A, Musso A, Trancikova A et al (2012) Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. PLoS One 7:e39942. https://doi.org/10.1371/journal.pone.0039942

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Di Fonzo A, Chien HF, Socal M et al (2007) ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 68:1557–1562. https://doi.org/10.1212/01.wnl.0000260963.08711.08

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Advanced Medical and Surgical Sciences, University of Campania “Luigi Vanvitelli”, Piazza Luigi Miraglia, 2, 80138, Naples, Italy

    Sara Satolli, Giovanna Pezzullo & Rosa De Micco

  2. Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy

    Sara Satolli

  3. Neurology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy

    Alessio Di Fonzo

  4. Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy

    Mariateresa Zanobio

  5. Neuroradiology Unit, University of Campania “Luigi Vanvitelli”, Naples, Italy

    Giovanna Pezzullo

Authors
  1. Sara Satolli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alessio Di Fonzo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mariateresa Zanobio
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Giovanna Pezzullo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Rosa De Micco
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Sara Satolli: writing—original draft (lead); Alessio Di Fonzo: methodology (lead); writing—review and editing (equal); Mariateresa Zanobio: methodology (lead); writing—review and editing (equal); Giovanna Pezzullo: writing—review and editing (equal); Rosa De Micco: conceptualization (lead); writing—original draft (lead).

Corresponding author

Correspondence to Rosa De Micco.

Ethics declarations

Ethical approval

The study was approved by the local Ethical Committee. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

Informed consent

The subject gave full written consent to be videoed and reported for publication both in print and online.

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Segment 1: finger tapping in OFF state; Segment 2: hypokinetic dysartria; Segment 3: fixed dystonic posture of the left lower limb; Segment 4: slow saccades; Segment 5: faucial myoclonus; Segment 6: facial myoclonus; Segment 7: absence of finger myoclonus; Segment 8 and 9: severe lower limb dyskinesia in ON state; Segment 10 and 11: normal plantar response; Segment 12: severe gait disturbances and unsteadiness (MP4 276023 kb)

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Satolli, S., Di Fonzo, A., Zanobio, M. et al. Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations. Neurol Sci 44, 3723–3725 (2023). https://doi.org/10.1007/s10072-023-06899-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-023-06899-2

Search

Navigation