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Comment
. 2022 Dec;37(12):2464-2466.
doi: 10.1002/mds.29258. Epub 2022 Oct 23.

GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype

Martin Krenn  1   2 , Rudolf Sommer  3 , Thomas Sycha  1   2 , Michael Zech  4   5
Affiliations
Comment

GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype

Martin Krenn et al. Mov Disord. 2022 Dec.
No abstract available

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  • Highlighting the Dystonic Phenotype Related to GNAO1.
    Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.

References

    1. Wirth T, Garone G, Kurian MA, et al. Highlighting the dystonic phenotype related to GNAO1. Mov Disord 2022;37:1547-1554.
    1. Nakamura K, Kodera H, Akita T, et al. De novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet 2013;93:496-505.
    1. Schirinzi T, Garone G, Travaglini L, et al. Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review. Parkinsonism Relat Disord 2019;61:19-25.
    1. Dzinovic I, Boesch S, Skorvanek M, et al. Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes. Parkinsonism Relat Disord 2022;102:1-6.
    1. Zech M, Jech R, Boesch S, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 2020;19:908-918.

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