Drs. Kurian and Gonzalez contributed equally to this work.
Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation
Article first published online: 23 MAY 2014
© 2014 International Parkinson and Movement Disorder Society
Movement Disorders Clinical Practice
Volume 1, Issue 2, pages 128–131, June 2014
How to Cite
Cif, L., Kurian, M. A., Gonzalez, V., Garcia-Ptacek, S., Roujeau, T., Gelisse, P., Moura de Ribeiro, A. M., Crespel, A., MacPherson, L. and Coubes, P. (2014), Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation. Movmnt Disords Clncl Practice, 1: 128–131. doi: 10.1002/mdc3.12030
Relevant disclosures and conflicts of interest are listed at the end of this article.
- Issue published online: 5 JUN 2014
- Article first published online: 23 MAY 2014
- Manuscript Accepted: 28 MAR 2014
- Manuscript Revised: 21 MAR 2014
- Manuscript Received: 13 JAN 2014
- Action Medical Research. Grant Number: RTF1301
- Wellcome Trust
- BCH Research Foundation. Grant Numbers: BCHRF132F, DLAG RCTL13426, DLAG RCPF14653, DLAG RCPF15131
- BDFNewLife. Grant Number: 07-08/09
|mdc312030-sup-0001-VideoS1.m4v||video/x-m4v||71755K||Video. Sequence 1 (8.5 years old): Sitting position is autonomous. Standing position and gait are possible with assistance, but impaired by ataxia and spasticity. Sequence 2 (11 years old): Sitting position, standing position, and gait are not autonomous. Dystonia and spasticity have worsened. Cerebellar signs with dysmetria and abnormal ocular movements are elicited. Sequence 3 (13 years old): Marked spasticity and skeletal deformities with bilateral fixed flexor knee, trunk ataxia, extensor trunk and neck spasms, severe worsening of the cerebellar signs involving the upper limbs, and intention tremor. One can see worsening of the abnormal ocular movements, observed at each blinking reflex. Sequence 4 (15 years old): Rapid and severe worsening of dystonia resulting in dystonic storm necessitating admission in the ICU for sedation. The child exhibits intense axial dystonic spasms, hyperthermia, and sweating. As consequence of severe dystonia, the child developed rhabdomyolisis and also had an aspiration pneumonia. Sequence 5 (15 years old): One month after DBS surgery: the child recovered from status dystonicus; she is able to sit with aid; she does not have dystonic spasms; she is fed orally; and upper-limb cerebellar signs improved, as did oculogyric crisis. Postural and intention tremor decreased, thereby allowing the patient to hold a pen and draw a circle. Sequence 6 (15.5 years old): Three months after DBS surgery: there is no relapse of severe dystonic spasms. The child is now able to shortly sit unaided. Grasping and dysmetria improved, compared with the pre-DBS condition. Ocular pursuit and saccades are satisfactory, and she has no episodic oculogyric crisis.|
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