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Comment
. 2020 Jun 1;143(6):e51.
doi: 10.1093/brain/awaa122.

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

Ilse Eidhof  1 , Jonathan Baets  2   3   4 , Erik-Jan Kamsteeg  1 , Annette Schenck  1 , Bart P van de Warrenburg  5
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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

Ilse Eidhof et al. Brain. .

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References

    1. Breza M, Bourinaris T, Efthymiou S, Maroofian R, Athanasiou-Fragkoulia A Tzartos J, et al.A homozygous GDAP2 loss-of-function variant in a patientwith adult-onset cerebellar ataxia. Brain 2020; 143: e49. - PMC - PubMed
    1. Dong H-L, Cheng H-L, Bai G, Shen Y, Wu Z-W. Novel GDAP2 pathogenic variants cause autosomal recessive SCAR27 in a Chinese family. Brain 2020; 143: e50. - PubMed
    1. Eidhof I, Baets J, Kamsteeg E-J, Deconinck T, van Ninhuijs L, Martin J-J, et al.GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain 2018. a; 141: 2592–604. - PMC - PubMed
    1. Eidhof I, van de Warrenburg BP, Schenck A.. SnapShot: biology of Genetic Ataxias. Cell 2018. b; 175: 890– e1. - PubMed
    1. Eidhof I, van de Warrenburg BP, Schenck A.. Integrative network and brain expression analysis reveals mechanistic modules in ataxia. J Med Genet 2019; 56: 283–92. - PMC - PubMed