Deep Brain Stimulation in Isolated Dystonia With a <i>GNAL</i> Mutation

Sarva, Harini; Trosch, Richard; Kiss, Zelma H. T.; Furtado, Sarah; Luciano, Marta San; Glickman, Amanda; Raymond, Deborah; Ozelius, Laurie J.; Bressman, Susan; Saunders‐Pullman, Rachel

doi:10.1002/mds.27585

Cited by 12 publications

(7 citation statements)

References 8 publications

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“…The largest case series so far documented the response of 3 unrelated individuals with isolated dystonia due to a mutation in GNAL ( 108 ). All patients improved with bilateral GPi-DBS, with a predominant improvement in cervical dystonia compared to other regions.…”

Section: Genetic Forms Of Dystonia and Response To Gpi-dbsmentioning

confidence: 99%

“…There are several case reports or case series documenting a response to GPi-DBS in GNAL mutation carriers (104)(105)(106)(107)(108). One patient with a novel missense variant (p.Met97Val) in GNAL with an associated phenotype of late-onset cervical and truncal dystonia had excellent long term and continuous benefit from bilateral GPi-DBS at 5 years follow-up (104).…”

Section: Dyt-gnal (Dyt25)mentioning

confidence: 99%

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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: Genetic Forms Of Dystonia and Response To Gpi-dbsmentioning

confidence: 99%

Section: Dyt-gnal (Dyt25)mentioning

confidence: 99%

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

Tisch

Kumar

2021

Front. Neurol.

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“…123 There are encouraging results in other genetic dystonias, such as DYT-6 124 and DYT-25. 125 STN DBS has shown promise in isolated cervical dystonia. 126 Among the rarer tremor disorders, there are reports of benefit in OT, 127 Holmes' tremor, 101 and for Wilson's disease-associated tremor.…”

Section: Surgical Treatmentsmentioning

confidence: 99%

Approach to Tremor Disorders

Lee

Sarva

2021

Semin Neurol

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Tremor disorders are diverse and complex. Historical clues and examination features play a major role in diagnosing these disorders, but diagnosis can be challenging due to phenotypic overlap. Ancillary testing, such as neuroimaging or laboratory testing, is driven by the history and examination, and should be performed particularly when there are other neurological or systemic manifestations. The pathophysiology of tremor is not entirely understood, but likely involves multiple networks along with the cerebello-thalamo-cortical pathways. Treatment options include medications, botulinum toxin, surgery, and nonpharmacologic interventions utilizing physical and occupational therapies and assistive devices. Further work is needed in developing accurate diagnostic tests and better treatment options for tremor disorders.

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“…GNAL mutation carrier status could therefore potentially serve as a predictor for the response to GPi-DBS in dystonic patients, in particular for cervical dystonia, given that major improvement of dystonia in other body regions was not observed in all reported patients. 5 The deletion of the GNAL gene in 18p-syndrome could therefore contribute to the good DBS response in the 2 reported patients. However, longer follow-up studies in larger patient samples are needed to provide more robust evidence for the role of DBS as a treatment option in 18p-syndrome patients.…”

mentioning

confidence: 91%

“…A sustained clinical response to GPi‐DBS was noted in 4 of these patients (1 patient with cervical, 1 patient with segmental, and 2 patients with generalized dystonia) with follow‐up duration up to 12‐96 months. GNAL mutation carrier status could therefore potentially serve as a predictor for the response to GPi‐DBS in dystonic patients, in particular for cervical dystonia, given that major improvement of dystonia in other body regions was not observed in all reported patients . The deletion of the GNAL gene in 18p‐ syndrome could therefore contribute to the good DBS response in the 2 reported patients.…”

mentioning

confidence: 97%