Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism DOI Creative Commons
Juan Darío Ortigoza‐Escobar

Tremor and Other Hyperkinetic Movements, Journal Year: 2023, Volume and Issue: 13, P. 36 - 36

Published: Oct. 6, 2023

Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions movement disorders limited and primarily derived from single cases or small patient series, highlighting the need increased awareness additional research field. Methods: A systematic review was conducted using MEDLINE database GeneReviews. The search included studies on metabolism associated with athetosis, ballismus. adhered to PRISMA guidelines. Results: analyzed 76 out 2350 records, encompassing period 1964 2022. Chorea observed 90.1% 173 patients, followed by athetosis 5.7%. Various showed an association trace elements metals being most frequent. Cognitive developmental abnormalities were common cohort. Frequent neurological features seizures, dysarthria, optic atrophy, whereas non-neurological included, among others, facial dysmorphia failure thrive. Neuroimaging biochemical testing played crucial roles aiding diagnosis, revealing abnormal findings 34.1% 47.9% respectively. However, symptomatic treatment efficacy limited. Discussion: This study emphasizes complexities chorea metabolism. approach red flags, testing, neuroimaging required diagnosis. Collaboration between neurologists, geneticists, metabolic specialists improving early detection individualized treatment. Utilizing genetic technologies potential therapeutic avenues can aid improvement

Language: Английский

MAMMALIAN COPPER HOMEOSTASIS: PHYSIOLOGIC ROLES AND MOLECULAR MECHANISMS DOI
Svetlana Lutsenko, Shubhrajit Roy, Peter Tsvetkov

et al.

Physiological Reviews, Journal Year: 2024, Volume and Issue: 105(1), P. 441 - 491

Published: Aug. 22, 2024

In the past decade, evidence for numerous roles of copper (Cu) in mammalian physiology has grown exponentially. The discoveries Cu involvement cell signaling, autophagy, motility, differentiation, and regulated death (cuproptosis) have markedly extended list already known functions Cu, such as a cofactor essential metabolic enzymes, protein structural component, regulator trafficking. Novel unexpected transporting proteins enzymes been identified, new disorders homeostasis described. Significant progress made mechanistic studies two classic metabolism, Menkes disease Wilson’s disease, which paved way novel approaches to their treatment. discovery cuproptosis role metastatic growth increased interest targeting homeostatic pathways treat cancer. this review, we summarize established concepts field discuss how decade expand modify these concepts. brain metabolism functional speciation recently discovered attracted significant attention are highlighted review.

Language: Английский

Citations

10
Efficacy and safety of levodopa in secondary dystonia due to neurological Wilson disease (LIDWID) DOI Creative Commons
Jayantee Kalita,

Faim Ahamed,

Roopali Mahajan

et al.

Annals of Movement Disorders, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 14, 2025

Abstract BACKGROUND: Dystonia is the most prevalent movement disorder in neurologic Wilson disease (NWD). While levodopa has demonstrated efficacy certain forms of primary dystonia, its effectiveness NWD not been evaluated. This study aimed to evaluate and safety compared placebo patients with dystonia associated through an open-label, randomized controlled trial. METHODS: Patients diagnosed a Burke–Fahn–Marsden Rating (BFMDR) score greater than 20 were included, provided that other potential causes excluded. Participants randomly assigned receive either levodopa–carbidopa (LCD) or placebo, using 1:1 randomization protocol. The LCD (100 mg + 10 mg) was initially administered dose half tablet thrice daily, dosage increasing every week 2 tablets daily. group received saccharine tablets. outcome assessed at 3 months. improvement BFMDR by more 50%. Secondary outcomes included Neurological Severity Grade (NSG), Dysphagia Outcome Scale (DOSS), Neuropsychiatric inventory (NPI), incidence side effects. RESULTS: Fifteen placebo. Only one patient each achieved outcome. At months, both groups showed improvements BFMRD, NSG, DOSS scores. However, BFMDRS (P = 0.36), NPI 0.20), 0.92), NSG 0.84) significantly different between groups. Four experienced minor CONCLUSION: safe well-tolerated NWD. Although did demonstrate significant advantage over reducing dystonia.

Language: Английский

Citations

0
Tackling the neurological manifestations in Wilson’s disease – currently available treatment options DOI
Tomasz Litwin, Petr Dušek, Agnieszka Antos

et al.

Expert Review of Neurotherapeutics, Journal Year: 2023, Volume and Issue: 23(12), P. 1249 - 1259

Published: Oct. 16, 2023

ABSTRACTIntroduction Wilson’s disease (WD) is a potentially treatable, inherited disorder resulting from impaired copper metabolism. Pathological accumulation causes range of symptoms, most commonly hepatic and wide spectrum neurological symptoms including tremor, dystonia, chorea, parkinsonism, dysphagia, dysarthria, gait posture disturbances. To reduce overload, anti-copper drugs are used that improve liver function in up to 85% patients. However, some WD patients, treatment introduction leads deterioration, others, persist with no improvement or only after several years treatment, severely affecting the patient’s quality life.Areas covered This review appraises evidence on various pharmacological non-pharmacological therapies, neurosurgical procedures transplantation for management symptoms. The authors also discuss WD, deterioration present symptomatic options.Expert opinion Based case series reports, current recommendations expert opinion, focused mainly leading negative body metabolism (chelators zinc salts) copper-restricted diet. Treatment should follow general treatment. Patients be always considered individually, especially severe, disabling symptoms.KEYWORDS: diseaseneurological symptomsdystonia, parkinsonismdysphagia, dysarthriasymptomatic Declaration interestThe have relevant affiliations financial involvement any organization entity interest conflict subject matter materials discussed manuscript. includes employment, consultancies, honoraria, stock ownership options, testimony, grants patents received pending, royalties.Reviewer disclosuresPeer reviewers this manuscript other relationships disclose.Additional informationFundingThis paper was not funded.

Language: Английский

Citations

9
Machine Learning Approaches to Identify Affected Brain Regions in Movement Disorders Using MRI Data: A Systematic Review and Diagnostic Meta‐analysis DOI
Sadegh Ghaderi, Mahdi Mohammadi, Fatemeh Sayehmiri

et al.

Journal of Magnetic Resonance Imaging, Journal Year: 2024, Volume and Issue: 60(6), P. 2518 - 2546

Published: March 27, 2024

Background Movement disorders such as Parkinson's disease are associated with structural and functional changes in specific brain regions. Advanced magnetic resonance imaging (MRI) techniques combined machine learning (ML) promising tools for identifying biomarkers patterns these disorders. Purpose/Hypothesis We aimed to systematically identify the regions most commonly affected movement using ML approaches applied MRI data. searched PubMed Scopus databases relevant keywords up June 2023 studies that used detect Study Type A systematic review diagnostic meta‐analysis. Population/Subjects Sixty‐seven 6,285 patients were included. Field Strength/Sequence Studies utilizing 1.5T or 3T MR scanners acquisition of diffusion tensor (DTI), (sMRI), (fMRI), a combination Assessment The authors independently assessed study quality CLAIM QUADAS‐2 criteria extracted data on accuracy measures. Statistical Tests Sensitivity, specificity, accuracy, area under curve pooled random‐effects models. Q statistics I 2 index evaluate heterogeneity, Begg's funnel plot was publication bias. Results sMRI showed highest sensitivity (93%) mixed modalities had specificity (90%) detecting regional abnormalities. 94% subcortical changes. support vector logistic regression (91%) models exhibited high accuracies. Data Conclusion advanced neuroimaging is approach structures frequently implicated. Structural MRI, particular, strong performance. Level Evidence 1 Technical Efficacy Stage

Language: Английский

Citations

1
Parkinsonism in liver diseases or dysfunction DOI

Sichen Li,

Yuxia Zhua,

Xi Liu

et al.

Medicina Clínica, Journal Year: 2024, Volume and Issue: 163(9), P. 461 - 468

Published: July 2, 2024

Citations

0
Parkinsonism in liver diseases or dysfunction DOI

Sichen Li,

Yuxia Zhua,

Xi Liu

et al.

Medicina Clínica (English Edition), Journal Year: 2024, Volume and Issue: 163(9), P. 461 - 468

Published: Nov. 1, 2024

Language: Английский

Citations

0
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism DOI Creative Commons
Juan Darío Ortigoza‐Escobar

Tremor and Other Hyperkinetic Movements, Journal Year: 2023, Volume and Issue: 13, P. 36 - 36

Published: Oct. 6, 2023

Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions movement disorders limited and primarily derived from single cases or small patient series, highlighting the need increased awareness additional research field. Methods: A systematic review was conducted using MEDLINE database GeneReviews. The search included studies on metabolism associated with athetosis, ballismus. adhered to PRISMA guidelines. Results: analyzed 76 out 2350 records, encompassing period 1964 2022. Chorea observed 90.1% 173 patients, followed by athetosis 5.7%. Various showed an association trace elements metals being most frequent. Cognitive developmental abnormalities were common cohort. Frequent neurological features seizures, dysarthria, optic atrophy, whereas non-neurological included, among others, facial dysmorphia failure thrive. Neuroimaging biochemical testing played crucial roles aiding diagnosis, revealing abnormal findings 34.1% 47.9% respectively. However, symptomatic treatment efficacy limited. Discussion: This study emphasizes complexities chorea metabolism. approach red flags, testing, neuroimaging required diagnosis. Collaboration between neurologists, geneticists, metabolic specialists improving early detection individualized treatment. Utilizing genetic technologies potential therapeutic avenues can aid improvement

Language: Английский

Citations

1