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Comment
. 2021 Jun;23(6):1171-1172.
doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9.

Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al

Joohyun Park  1 , Natalie Deininger  2 , Maren Rautenberg  2 , Carsten Saft  3 , Florian Harmuth  2 , Marc Sturm  2 , Olaf Riess  2   4 , Ludger Schöls  4   5   6 , Matthis Synofzik  5   6 , Tobias B Haack  2   4
Affiliations
Comment

Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al

Joohyun Park et al. Genet Med. 2021 Jun.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Comment in

  • Response to Park et al.
    Barbier M, Davoine CS, Brice A, Durr A. Barbier M, et al. Genet Med. 2021 Jun;23(6):1173-1174. doi: 10.1038/s41436-021-01105-0. Epub 2021 Feb 24. Genet Med. 2021. PMID: 33627829 Free PMC article. No abstract available.

Comment on

References

    1. Roux, T. et al. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genet. Med.22, 1851–1862 (2020). - PubMed
    1. Cagnoli C, et al. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. Hum. Mutat. 2010;31:1117–1124. doi: 10.1002/humu.21342. - DOI - PubMed
    1. Chen DH, et al. Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. Neurol. Genet. 2020;6:1–13. - PMC - PubMed
    1. Genis D, et al. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48) Neurology. 2018;91:e1988. doi: 10.1212/WNL.0000000000006550. - DOI - PubMed
    1. Heimdal K, et al. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J. Rare Dis. 2014;9:146. doi: 10.1186/s13023-014-0146-0. - DOI - PMC - PubMed

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