Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T &gt; G mutation of the PANK2 gene

Tanrıkulu, Bahattin; Özen, Ali Çağlar; Günal, Dilek İnce; Türkdoğan, Dilşad; Bayraklı, Fatih; Bayri, Yaşar; Dağçınar, Adnan; Şeker, Aşkın

doi:10.1007/s00701-015-2514-5

Cited by 17 publications

(4 citation statements)

References 15 publications

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“…There are several case reports of dystonia due to PKAN treated with GPi-DBS, with most documenting a good response (127)(128)(129)(130)(131), although with one instance of no benefit (132). It is notable that genetic testing was not always performed in these cases, making it difficult to be sure of the genotype specific outcome.…”

Section: Nbia/dyt-pank2mentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults. Predictive factors for the degree of improvement after GPi DBS include shorter disease duration and dystonia subtype with idiopathic isolated dystonia usually responding better than acquired combined dystonias. Other factors contributing to variability in outcome may include body distribution, pattern of dystonia and DBS related factors such as lead placement and stimulation parameters. The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia, although other studies have found no difference. Recently a subgroup with young onset DYT-TOR1A, more rapid progression and secondary worsening after effective GPi DBS, has been described. Myoclonus dystonia due to DYT-SCGE (DYT11) usually responds well to GPi DBS. Good outcomes following GPi DBS have also been documented in X-linked dystonia Parkinsonism (DYT3). In contrast, poorer, more variable DBS outcomes have been reported in DYT-THAP1 (DYT6) including a recent larger series. The outcome of GPi DBS in other monogenic isolated and combined dystonias including DYT-GNAL (DYT25), DYT-KMT2B (DYT28), DYT-ATP1A3 (DYT12), and DYT-ANO3 (DYT24) have been reported with varying results in smaller numbers of patients. In this article the available evidence for long term GPi DBS outcome between different genetic dystonias is reviewed to reappraise popular perceptions of expected outcomes and revisit whether genetic diagnosis may assist in predicting DBS outcome.

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Section: Nbia/dyt-pank2mentioning

confidence: 99%

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Tisch

Kumar

2021

Front. Neurol.

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“…The benefits of deep brain stimulation for 3 earlier reported cases with GNAO1 deficiency 2,3 and other causes of status dystonicus [12][13][14] were reviewed with the parents and the potential risks were extrapolated from our series of nearly 500 adult patients. Preoperatively, he scored 27/32 on the Pediatric Barry Albright Dystonia Scale (lower on this scale is better) and 2/100 on the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) quality of life scale (higher on this scale is better).…”

Section: Results Of Deep Brain Stimulationmentioning

confidence: 99%

GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

et al. 2018

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Dystonic storm or status dystonicus is a life-threatening hyperkinetic movement disorder with biochemical alterations due to the excessive muscle contractions. The medical management can require pediatric intensive care unit admission and a combination of medications while the underlying trigger is managed. Severe cases may require general anesthesia and paralytic agents with intubation and may relapse when these drugs are weaned. Deep brain stimulation of the globus pallidum has been reported to terminate dystonic storm in several pediatric cases. We present a 10-year-old boy with a de novo GNAO1 mutation-induced dystonic storm who required a 2-month pediatric intensive care unit admission and remained refractory to all medical treatments. Deep brain stimulation was performed under general anesthetic without complication. His dyskinetic movements stopped with initiation of stimulation. He was discharged from the pediatric intensive care unit after 4 days. We present prospectively evaluated changes in dystonia symptoms and quality of life for a patient with GNAO1 mutation treated with deep brain stimulation.

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“…16,29,36,50,55,62 Eight patients (10%; Appendix S3) required revisions due to lead migration or fractures. Although quality of life was not formally measured in most studies, many allude to an improvement, specifically with respect to seating tolerance, 36,58 hygiene, 58 improved facial expressions, 30 and ability to leave hospital and for family to plan outings, 57 following DBS for SD.…”

Section: Systematic Reviewmentioning

confidence: 99%

Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review

Vogt,

Yan,

Santyr

et al. 2023

Annals of Neurology

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ObjectiveWe sought to better understand the workflow, outcomes, and complications of deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic review, alongside a multi‐center case series of pediatric patients with SD treated with DBS.MethodsWe collected individual data regarding treatment, stimulation parameters, and dystonia severity for a multi‐center case series (n=8) and all previously published cases (n=77). Data for case series was used to create probabilistic voxel‐wise maps of stimulated tissue associated with dystonia improvement.ResultsIn our institutional series, DBS was implanted a mean of 25 days post‐SD onset. Programming began a mean of 1.6 days after surgery. All eight patients in our case series and 73/74 reported patients in the systematic review had resolution of their SD with DBS, most within 2‐4 weeks of surgery. Mean follow‐up for patients in the case series was 16 months. DBS target for all patients in the case series and 68/77 in our systematic review was the globus pallidus pars interna (GPi). In our case series, stimulation of the posterior‐ventrolateral GPi was associated with improved dystonia. Mean dystonia improvement was 32% and 51% in our institutional series and systematic review, respectively. Mortality was 4% in the review, which is lower than reported for treatment with pharmacotherapy alone (10‐12.5%).InterpretationDBS is a feasible intervention with potential to reverse refractory pediatric SD and improve survival. More work is needed to increase awareness of DBS in this setting, so that it can be implemented in a timely manner.This article is protected by copyright. All rights reserved.

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Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene

Cited by 17 publications

References 15 publications

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review

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