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. 2022 Aug;37(8):1774-1776.
doi: 10.1002/mds.29054. Epub 2022 May 12.

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia

Johanna Schöggl  1 , Sandy Siegert  1 , Eugen Boltshauser  2 , Michael Freilinger  1 , Wolfgang M Schmidt  3
Affiliations

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia

Johanna Schöggl et al. Mov Disord. 2022 Aug.
No abstract available

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Figures

FIG 1
FIG 1
Neuroimaging at the age of 40 months. (A) Sagittal T1‐weighted image demonstrating markedly enlarged fissures of the cerebellar vermis and preserved pontine protuberance. (B) Axial T1‐weighted image showing enlarged fissures in vermis and cerebellar hemispheres. (C) Axial FLAIR sequence with evidence of mild hyperintensity of the cerebellar cortex (compared with cerebral cortex). FLAIR, fluid‐attenuated inversion recovery.
See this image and copyright information in PMC

References

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