Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia

Albanese, Alberto; Giovanni, Mario Di; Amami, Paolo; Lalli, Stefania

doi:10.1016/j.parkreldis.2017.09.008

Cited by 26 publications

(25 citation statements)

References 5 publications

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“…The arm posturing may be paroxysmal, with no neurological signs between attacks (e.g., case one) or occur together with other signs including chorea, ataxia, and hypotonia (cases two, three, and four). Reviewing the videos of recent reports of adult patients with ATP1A3 mutations further lent support to our belief that attacks of marked arm flexion posturing, sometimes as episodic exacerbation of mild pre‐existent dystonia, are a clue to ATP1A3 ‐related disease . Indeed, while previous diagnostic criteria did not include paroxysmal or episodic dystonia, a recent expert consensus proposed alternating or paroxysmal dystonia as a major feature calling for ATP1A3 genetic testing …”

Section: Discussionmentioning

confidence: 74%

“…Reviewing the videos of recent reports of adult patients with ATP1A3 mutations further lent support to our belief that attacks of marked arm flexion posturing, sometimes as episodic exacerbation of mild pre-existent dystonia, are a clue to ATP1A3-related disease. 13,14 Indeed, while previous diagnostic criteria did not include paroxysmal or episodic dystonia, a recent expert consensus proposed alternating or paroxysmal dystonia as a major feature calling for ATP1A3 genetic testing. 15 The pathophysiological mechanisms underlying the marked asymmetry and the episodic nature are intriguing.…”

Section: Discussionmentioning

confidence: 99%

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Paroxysmal Asymmetric Dystonic Arm Posturing—A Less Recognized but Characteristic Manifestation of ATP1A3‐related disease

Balint

Stephen

Udani

et al. 2019

Movement Disord Clin Pract

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Background ATP1A3 mutations cause a wide clinical spectrum, and are one of the “commoner rare diseases”. Methods Case series of four patients with ATP1A3 mutations. Results The patients displayed characteristic episodes of dystonic arm posturing, involving a dystonic, flexed arm held in front of the body or close to the body, but with the hand raised upwards. Other attacks manifested with arm extension, either beside the body or reaching upwards. Dystonic posturing occurred paroxysmally, with no neurological signs between attacks, or combined with other signs like chorea, ataxia, and hypotonia. Conclusions While previous diagnostic criteria have not included paroxysmal or episodic dystonia, recent expert consensus has proposed to include alternating or paroxysmal dystonia as major feature calling for ATP1A3 genetic testing. Attacks of marked arm flexion posturing, either paroxysmal or as episodic exacerbation of mild pre‐existent dystonia, are a characteristic clue to ATP1A3‐related disease.

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Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 99%

Paroxysmal Asymmetric Dystonic Arm Posturing—A Less Recognized but Characteristic Manifestation of ATP1A3‐related disease

Balint

Stephen

Udani

et al. 2019

Movement Disord Clin Pract

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“…GPi DBS can lead to substantial benefit and stabilization of disease course in patients with milder phenotype …”

Section: Neuromodulationmentioning

confidence: 99%

Current therapies and therapeutic decision making for childhood‐onset movement disorders

2019

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Movement disorders differ in children to adults. First, neurodevelopmental movement disorders such as tics and stereotypies are more prevalent than parkinsonism, and second, there is a genomic revolution which is now explaining many early‐onset dystonic syndromes. We outline an approach to children with movement disorders starting with defining the movement phenomenology, determining the level of functional impairment due to abnormal movements, and screening for comorbid psychiatric conditions and cognitive impairments which often contribute more to disability than the movements themselves. The rapid improvement in our understanding of the etiology of movement disorders has resulted in an increasing focus on precision medicine, targeting treatable conditions and defining modifiable disease processes. We profile some of the key disease‐modifying therapies in metabolic, neurotransmitter, inflammatory, and autoimmune conditions and the increasing focus on gene or cellular therapies. When no disease‐modifying therapies are possible, symptomatic therapies are often all that is available. These classically target dopaminergic, cholinergic, alpha‐adrenergic, or GABAergic neurochemistry. Increasing interest in neuromodulation has highlighted that some clinical syndromes respond better to DBS, and further highlights the importance of “disease‐specific” therapies with a future focus on individualized therapies according to the genomic findings or disease pathways that are disrupted. We summarize some pragmatic applications of symptomatic therapies, neuromodulation techniques, and some rehabilitative interventions and provide a contemporary overview of treatment in childhood‐onset movement disorders. © 2019 International Parkinson and Movement Disorder Society

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“…For example, deep brain stimulation (DBS) of the globus pallidus internus (GPi) is highly effective in genetically undefined dystonia patients, resulting in improvement of ~50%‐60% . However, patients with rapid‐onset dystonia‐parkinsonism because of mutations in the ATP1A3 gene (DYT/PARK‐ATP1A3) seem to not, or almost not, respond to GPi DBS, although the number of stimulated patients is still small because of the rarity of this disease . Although the response to DBS is highly beneficial in most patients with DYT‐Tor1A (formerly known as DYT1) dystonia and X‐linked dystonia‐parkinsonism (XDP), the outcome is less predictable in DYT‐THAP1 dystonia (previously named DYT6 dystonia) .…”

Section: Scope Of the Problemmentioning

confidence: 99%

“…[8][9][10] However, patients with rapid-onset dystonia-parkinsonism because of mutations in the ATP1A3 gene (DYT/PARK-ATP1A3) seem to not, or almost not, respond to GPi DBS, although the number of stimulated patients is still small because of the rarity of this disease. 11,12 Although the response to DBS is highly beneficial in most patients with DYT-Tor1A (formerly known as DYT1) dystonia 13,14 and X-linked dystoniaparkinsonism (XDP), 15 the outcome is less predictable in DYT-THAP1 dystonia (previously named DYT6 dystonia). 14 Although variability in the response to GPi DBS may be mostly attributable to lead positioning, disease duration, and other factors, 16 the genotype may also explain failure of DBS treatment at least to some extent.…”

Section: Genotype-specific Treatment Choicesmentioning

confidence: 99%

Will genotype drive treatment options?

Brüggemann

Klein

2019

Movement Disorders

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Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well‐defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene‐targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene‐specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society

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Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia

Cited by 26 publications

References 5 publications

Paroxysmal Asymmetric Dystonic Arm Posturing—A Less Recognized but Characteristic Manifestation of ATP1A3‐related disease

Paroxysmal Asymmetric Dystonic Arm Posturing—A Less Recognized but Characteristic Manifestation of ATP1A3‐related disease

Current therapies and therapeutic decision making for childhood‐onset movement disorders

Will genotype drive treatment options?

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