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Case Reports
. 2016 Nov;31(11):1752-1753.
doi: 10.1002/mds.26800. Epub 2016 Sep 22.

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia

Timothy Feyma  1 , Keri Ramsey  2 ; C4RCD Research Group; Matthew J Huentelman  2   3 , David W Craig  2 , Sergio Padilla-Lopez  4   5 , Vinodh Narayanan  2   3 , Michael C Kruer  3   4   5
Affiliations
Case Reports

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia

Timothy Feyma et al. Mov Disord. 2016 Nov.
No abstract available

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Figures

FIG. 1
FIG. 1
Familial cerebellar degeneration. A: Pedigree demonstrating X-linked inheritance of ataxia. B: MRI of brain demonstrates volume loss of the cerebellar hemispheres and vermis. [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

References

    1. Zanni G, Calì T, Kalscheuer VM, et al. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci USA. 2012;109(36):14514–14519. - PMC - PubMed
    1. Calì T, Lopreiato R, Shimony J, et al. A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1α mutations. J Biol Chem. 2015;290(26):16132–16141. - PMC - PubMed
    1. Charlesworth G, Angelova PR, Bortolome-Robledo F, et al. Mutations in HPCA cause autosomal recessive primary isolated dystonia. Am J Hum Genet. 2015;96:657–665. - PMC - PubMed

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Supplementary concepts