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. 2022 May-Jun;25(3):562-565.
doi: 10.4103/aian.aian_952_21. Epub 2022 Apr 20.

Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype

Peyalee Sarkar  1 , Adreesh Mukherjee  1 , Sumanta Sarkar  1 , Raju Agrawal  1 , Souvik Dubey  1 , Alak Pandit  1
Affiliations

Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype

Peyalee Sarkar et al. Ann Indian Acad Neurol. 2022 May-Jun.
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Hypomyelination with cerebellar and cortical atrophy. Magnetic resonance imaging of brain—axial T2-weighted (a), T2 fluid-attenuated inversion recovery (b), T1-weighted (c), and sagittal T2-weighted (d) images: showing symmetrical white matter signal intensity changes—hyperintense on T2/FLAIR (arrows) and isointense on T1, with cerebellar and cortical atrophy
See this image and copyright information in PMC

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References

    1. Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013;73:546–53. - PMC - PubMed
    1. Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, et al. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. Eur J Paediatr Neurol. 2016;20:323–30. - PubMed
    1. Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park J-S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013;73:537–45. - PMC - PubMed
    1. Ferreira C, Poretti A, Cohen J, Hamosh A, Naidu S. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) Am J Med Genet A. 2014;164:1802–7. - PMC - PubMed
    1. Lu Y, Ondo Y, Shimojima K, Osaka H, Yamamoto T. A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. Hum Genome Var. 2017;4:17035. - PMC - PubMed