Jul-Aug 2021;24(4):630-632.
 doi: 10.4103/aian.AIAN_619_20. Epub 2021 Apr 10.

Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia

Affiliations 

Affiliation

  • 1Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Kerala, India.
Free PMC article
No abstract available

Conflict of interest statement

There are no conflicts of interest.

References

    1. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268:1749–53. - PubMed
    1. van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, et al. Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. Neurology. 2019;92:e19–29. - PubMed
    1. Verhagen MMM, Abdo WF, Willemsen MAAP, Hogervorst FBL, Smeets DFCM, Hiel JAP, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology. 2009;73:430–7. - PubMed
    1. Saunders-Pullman RJ, Gatti R. Ataxia-telangiectasia: Without ataxia or telangiectasia? Neurology. 2009;73:414–5. - PubMed
    1. Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, et al. Phenotypic insights into ADCY5-associated disease. Mov Disord. 2016;31:1033–40. - PMC PubMed
    1. Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, et al. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet. 2015;24:987–93. - PMC PubMed
    1. Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, et al. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet. 2015;24:5326–9. - PMC PubMed
    1. Groen JL, Ritz K, Jalalzadeh H, van der Salm SMA, Jongejan A, Mook OR, et al. RELN rare variants in myoclonus-dystonia. Mov Disord. 2015;30:415–9. - PubMed
    1. Goyal V, Behari M. Dystonia as presenting manifestation of ataxia telangiectasia: A case report. Neurol India. 2002;50:187–9. - PubMed
    1. Mahadevappa M, Kamble N, Santhosh Kumar DV, Yadav R, Netravathi M, Pal PK. A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center. Ann Mov Disord. 2020;3:33–8.