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A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation

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References

  1. 1.

    Barth PG (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15(6):411–422

  2. 2.

    Uhl M, Pawlik H, Laubenberger J, Darge K, Baborie A, Korinthenberg R, Langer M (1998) MR findings in pontocerebellar hypoplasia. Pediatr Radiol 28(7):547–551

  3. 3.

    Namavar Y, Barth PG, Poll-The BT, Baas F (2011) Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 6:50. doi:10.1186/1750-1172-6-50

  4. 4.

    Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R, PCH Consortium, Dobyns WB, Baas F, Poll-The BT (2011) Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 134(Pt 1):143–156. doi:10.1093/brain/awq287 (Epub 2010 Oct 15)

  5. 5.

    Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, teBeek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40(9):1113–1118. doi:10.1038/ng.204

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Conflict of interest

The authors report no disclosure relevant to the manuscript. Dr. Gupta: no financial disclosure. Dr. Lee: no financial disclosure. Dr. Ramakrishnaiah: no financial disclosure. Dr. Sharp: no financial disclosure. Dr. Walters: no financial disclosure.

Ethical standard

This article does not contain any studies with animals performed by any of the authors.

Consent

Consent for the video was obtained from the parents as per the institution policy as well as the requirements of the journal.

Author information

Correspondence to Harsh V. Gupta.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 Video description: This video demonstrates dystonic posturing of upper extremities, choreiform movements of upper extremities as well as face, and intermittent myoclonus involving upper extremities. (WMV 5448 kb)

Supplementary material 1 Video description: This video demonstrates dystonic posturing of upper extremities, choreiform movements of upper extremities as well as face, and intermittent myoclonus involving upper extremities. (WMV 5448 kb)

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Gupta, H.V., Ramakrishnaiah, R.H., Sharp, G.B. et al. A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation. Acta Neurol Belg 115, 783–785 (2015). https://doi.org/10.1007/s13760-015-0461-9

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Keywords

  • Pontocerebellar hypoplasia
  • Video case report
  • Chorea
  • Dystonia
  • Myoclonus
  • Rhabdomyolysis