Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome

Stephen R Duma^{1

2}, Alessandro F Fois^{1

2}, Hugo Morales-Briceño¹, Michael W K Fong^{1

3}, James G Colebatch^{3

4}, Alison Colley⁵, Jacqueline McMaster⁶, Neil Mahant¹

Affiliations

¹ Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.
² Sydney Medical School The University of Sydney Sydney Australia.
³ Department of Neurology Prince of Wales Hospital Sydney Australia.
⁴ Neuroscience Research Australia Randwick Australia.
⁵ Department Clinical Genetics Liverpool Hospital Sydney Australia.
⁶ Department of Neurosurgery Westmead Hospital Sydney Australia.

Case Reports

Stephen R Duma et al. Mov Disord Clin Pract. 2019.

. 2019 Feb 25;6(3):263-264.

doi: 10.1002/mdc3.12729. eCollection 2019 Mar.

Stephen R Duma^{1

2}, Alessandro F Fois^{1

2}, Hugo Morales-Briceño¹, Michael W K Fong^{1

3}, James G Colebatch^{3

4}, Alison Colley⁵, Jacqueline McMaster⁶, Neil Mahant¹

¹ Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.
² Sydney Medical School The University of Sydney Sydney Australia.
³ Department of Neurology Prince of Wales Hospital Sydney Australia.
⁴ Neuroscience Research Australia Randwick Australia.
⁵ Department Clinical Genetics Liverpool Hospital Sydney Australia.
⁶ Department of Neurosurgery Westmead Hospital Sydney Australia.

No abstract available

References

1. de Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon C. Dysmorphie complexe avec oligophrenie: deletion des bras courts d'un chromosome 17‐18. C R Hebd Séances Acad Sci 1963;256:1028.
1. Hasi‐Zogaj M, Sebold C, Heard P, et al. A review of 18p deletions. Am J Med Genet Part C Semin Med Genet 2015;169:251–264. - PubMed
1. Kumar N, Rizek P, Jog M. Movement disorders in 18p deletion syndrome: a case report and review of literature. Can J Neurol Sci 2017;44:441–443. - PubMed
1. Esposito F, Addor M‐C, Humm AM, Vingerhoets F, Wider C. GNAL deletion as a probable cause of dystonia in a patient with the 18p‐ syndrome. Parkinsonism Rel Disord 2014;20:351–352. - PubMed
1. Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014;71:490–494. - PMC - PubMed