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. 2021 Jun 14;8(6):969-971.
doi: 10.1002/mdc3.13260. eCollection 2021 Aug.

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Leire Manrique  1 , Antonio Sánchez-Rodríguez  1 , Ana L Pelayo-Negro  1 , Marc Corral-Juan  2 , Antoni Matilla-Dueñas  2 , Jon Infante  1
Affiliations

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Leire Manrique et al. Mov Disord Clin Pract. .
No abstract available

Keywords: ATP13A2; Kufor‐Rakeb; ataxia; mutation; myoclonus.

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Conflict of interest statement

No specific funding was received for this work and the authors declare that there are no conflicts of interest relevant to this work.

Figures

FIG. 1
FIG. 1
Pedigree and segregation analysis of the ATP13A2 mutations (A). Sagittal T1‐weighted (B) and axial T2‐weighted MRI (C) showing prominent cerebellar atrophy and fourth ventricle enlargement.
See this image and copyright information in PMC

References

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