Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report

Yamashita, Y.; Ogawa, Takashi; Ogaki, Kotaro; Kamo, Hikaru; Sukigara, Tomomi; Kitahara, Eriko; Izawa, Nana; Iwamuro, Hirokazu; Oyama, Genko; Kamagata, Koji; Hatano, Taku; Umemura, Atsushi; Kosaki, Rika; Kubota, Masaya; Shimo, Yasushi

doi:10.1016/j.jns.2020.116710

Cited by 16 publications

(14 citation statements)

References 9 publications

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“…De novo heterozygous mutations in GNAO1 cause a spectrum of disorders including a neurodevelopmental delay, epileptic encephalopathy, and involuntary movements (120). There are numerous case reports and case series supporting DBS in GNAO1-associated movement disorders (120)(121)(122)(123)(124). Of note, emergency GPi-DBS in a severely ill patient produced a dramatic, life-saving response with almost complete remission of the hyperkinesia despite persistence of generalized dystonia (120).…”

Section: Gnao1-related Dystoniamentioning

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: Gnao1-related Dystoniamentioning

confidence: 99%

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

Tisch

Kumar

2021

Front. Neurol.

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“…There is a limited experience with DBS in patients with GNAO1-related dystonia. According to the limited experience published thus far, these patients tend to respond well to pallidal DBS in the context of dystonic storm [7][8][9][10][11][12][13][14][15][16][17]. For instance, pallidal DBS has been used as an emergency measure to abate the severe dyskinesias and to restore normal daily functioning including feeding and sleeping [7,13].…”

Section: Discussionmentioning

confidence: 99%

“…Variants in the GNAO1 gene (guanine-nucleotide-binding protein) have been identified in few patients with dystonic storm [7]. Such patients have been described to respond well to pallidal DBS [7][8][9][10][11][12][13][14][15][16][17]. Here, we report on the use of pallidal DBS as an emergency treatment in a 16-year-old girl with a variant in the GNAO1 gene who presented with a medically refractory dystonic storm complicated by severe rhabdomyolysis and acute colitis.…”

Section: Introductionmentioning

confidence: 99%

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1

et al. 2022

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Introduction Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases. Case description We report on a 16-year-old girl with a variant in the GNAO1 gene (c.626G > T; p.(Arg209Leu)) who was admitted to the intensive care unit with medically refractory dystonic storm with secondary complications inducing rhabdomyolysis and acute colitis. Emergency pallidal DBS resulted in rapid improvement of dystonic storm and the subsidence of rhabdomyolysis and colitis. There were no further episodes of dystonic storm during follow-up of 2 years. Conclusion Pallidal DBS is a useful treatment option for GNAO1-related dystonic storm with secondary complications which can be performed as an emergency surgery.

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“…[12] Up to date, there were 17 published DBS implantations in patients with GNAO1-associated movement disorders and all reported "positive" results, usually with dramatic improvement of the hyperkinetic movement and decrease in the recurrence of status dystonicus. [3,4,8,9,13,14,[18][19][20] ese reports could certainly be limited by reporting bias. However, the response of DBS in these cases was dramatic as shown in video recordings with on and off stimulation.…”

Section: Discussionmentioning

confidence: 99%

“…[8,13,20] All DBS implantations with GNAO1 mutations were targeted at GPi. [2,3,6,19] e optimal stimulation setting is still unknown. A range of settings has been reported: with amplitude, pulse width, and frequency ranging from 1 to 4 V, 50 to 450 µs, and 130 to 210 Hz, respectively.…”

Section: Discussionmentioning

confidence: 99%

Deep brain stimulation in a young child with GNAO1 mutation – Feasible and helpful

Fung

et al. 2022

Surgical Neurology International

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Background: GNAO1 is an emerging disorder characterized with hypotonia, developmental delay, epilepsy, and movement disorder, which can be potentially life threatening during acute exacerbation. In the USA, deep brain stimulation (DBS) has been licensed for treating children with chronic, treatment-resistant primary dystonia, who are 7 years old or older. Case Description: A 4-year-old girl diagnosed to have GNAO1-related dyskinesia and severe global developmental delay. She had severe dyskinesia precipitated by intercurrent infection, requiring prolonged intensive care for heavy sedation and related complications. Her dyskinesia improved dramatically after DBS implantation. Technical difficulties and precautions of DBS in preschool children were discussed. Conclusion: DBS should be considered early in the treatment of drug-resistant movement disorders in young children with GNAO1, especially after dyskinetic crisis, as they tend to recur. Presurgical counseling to parents and close monitoring of complications is also important in the process.

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Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report

Cited by 16 publications

References 9 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

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1

Deep brain stimulation in a young child with GNAO1 mutation – Feasible and helpful

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