Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis

Wu, Yunhao; Li, Hongxia; Zhang, Chencheng; Sun, Bomin; Li, Dianyou; Wu, Yiwen

doi:10.1007/s10072-020-04246-3

Cited by 6 publications

(5 citation statements)

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“…However, the main neuropathological feature in ChAc patients is the selective degeneration of the caudate nucleus and putamen [ 6 , 35 ] and, to a lesser extent, other basal ganglia nuclei [ 4 , 8 , 36 ]. Interestingly, we found weak VPS13A staining in these basal ganglia nuclei.…”

Section: Discussionmentioning

confidence: 99%

Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain

García-García

Chaparro-Cabanillas

Coll-Manzano

et al. 2021

IJMS

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Loss-of-function mutations in the human vacuolar protein sorting the 13 homolog A (VPS13A) gene cause Chorea-acanthocytosis (ChAc), with selective degeneration of the striatum as the main neuropathologic feature. Very little is known about the VPS13A expression in the brain. The main objective of this work was to assess, for the first time, the spatiotemporal distribution of VPS13A in the mouse brain. We found VPS13A expression present in neurons already in the embryonic stage, with stable levels until adulthood. VPS13A mRNA and protein distributions were similar in the adult mouse brain. We found a widespread VPS13A distribution, with the strongest expression profiles in the pons, hippocampus, and cerebellum. Interestingly, expression was weak in the basal ganglia. VPS13A staining was positive in glutamatergic, GABAergic, and cholinergic neurons, but rarely in glial cells. At the cellular level, VPS13A was mainly located in the soma and neurites, co-localizing with both the endoplasmic reticulum and mitochondria. However, it was not enriched in dendritic spines or the synaptosomal fraction of cortical neurons. In vivo pharmacological modulation of the glutamatergic, dopaminergic or cholinergic systems did not modulate VPS13A concentration in the hippocampus, cerebral cortex, or striatum. These results indicate that VPS13A has remarkable stability in neuronal cells. Understanding the distinct expression pattern of VPS13A can provide relevant information to unravel pathophysiological hallmarks of ChAc.

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Section: Discussionmentioning

confidence: 99%

Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain

García-García

Chaparro-Cabanillas

Coll-Manzano

et al. 2021

IJMS

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“…17,18 Although STN-DBS can quickly improve patients' motor symptoms, its potential risks of causing or aggravating cognitive impairment, insufficient improvement of axial symptoms, and declines in verbal fluency tasks, in particular, should also be considered. 16 In the present review, oromandibular dystonia significantly improved in 25 of the 26 patients postsurgery. In cases where oromandibular dystonia affects a patient's voice, the voice becomes clearer as the condition improves.…”

Section: Discussionmentioning

confidence: 54%

“…Therefore, the benefits and risks of using multiple targets must be clearly understood. Moreover, Wu et al [ 16 ] reported that BFMDRS-MS and UHDRS-MS improved rapidly after STN-DBS in two siblings with ChAc. STN-DBS appears to provide effective, long-lasting, and more rapid-acting treatment for ChAc and shows potential economic advantages because it uses less electrical energy [ 17 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…STN-DBS appears to provide effective, long-lasting, and more rapid-acting treatment for ChAc and shows potential economic advantages because it uses less electrical energy [ 17 , 18 ]. Although STN-DBS can quickly improve patients’ motor symptoms, its potential risks of causing or aggravating cognitive impairment, insufficient improvement of axial symptoms, and declines in verbal fluency tasks, in particular, should also be considered [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

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Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data

Dong

et al. 2022

JMD

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A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington's Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

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“… 26 , 27 A nondrug treatment for chorea is deep brain stimulation (DBS). It has been successfully applied in patients with Huntington's chorea, 28 in patients with chorea due to acanthocytosis, 29 or in patients with chorea due to cerebral hypoxia. 30 As most of the drugs mentioned above have side effects, it is crucial to weigh the risk and benefit for the patient and to stop the drug, even if it is beneficial.…”

Section: Discussionmentioning

confidence: 99%

Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

Finsterer¹,

Ghosh

2023

Clinical Case Reports

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Hypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome.The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloperidol and mitochondrial cocktails have proven beneficial in some of these cases. Here we present another patient with mitochondrial choreaballism who benefited significantly from symptomatic therapy. The patient is a 14-year-old male with a history of hypoacusis, ptosis, and focal tonic-clonic seizures of the upper/lower limbs on either side since childhood. Since this time he has also developed occasional, abnormal involuntary limb movements, choreaballism, facial grimacing, carpopedal spasms, and abnormal lip sensations. He was diagnosed with a non-syndromic mitochondrial disorder after detection of the variant m.15043G > A in MT-CYB.Seizures have been successfully treated with lamotrigine. Hypocalcemia was treated with intravenous calcium. For hypoparathyroidism calcitriol was given.Choreaballism was treated with haloperidol and tetrabenazine. In addition, he received coenzyme Q10, L-carnitine, thiamine, riboflavin, alpha-lipoic acid, biotin, vitamin-C, vitamin-E, and creatine-monohydrate. With this therapy, the choreaballism disappeared completely. This case shows that mitochondrial disorders can manifest with cognitive impairment, seizures, movement disorder, hypoacusis, endocrinopathy, cardiomyopathy, neuropathy, and myopathy, that choreaballism can be a phenotypic feature of multisystem mitochondrial disorders, and that choreaballism favorably responds to haloperidol, tetrabenazine, and possibly to a cocktail of antioxidants, cofactors, and vitamins.

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Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis

Cited by 6 publications

References 5 publications

Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain

Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data

Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants

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