Guanine triphosphate (GTP)-cyclohydrolase 1 (GCH1)-deficient dopa-responsive dystonia is caused by GCH1 gene mutation. Two children presenting with frequent daily falling are reported with GCH1 gene mutations with persistent response to low-dose levodopa/carbidopa. Typical and atypical clinical features associated with GCH1 mutations are also reviewed.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005918 | PMC |
| http://dx.doi.org/10.1177/0883073811420871 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
An Open-Label Pilot Study to Examine the Safety, Tolerability and Efficacy of Deutetrabenazine in Isolated Dystonia.
Mov Disord Clin Pract
January 2025
Parkinson Disease and Movement Disorders Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Background: Dystonia may respond to VMAT2 inhibition.
Objectives: Providing pilot data on the safety, tolerability, and efficacy of deutetrabenazine in non dopa-responsive dystonia.
Methods: Deutetrabenazine was titrated by adults with isolated dystonia.
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.
Parkinsonism Relat Disord
January 2025
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.
Article Synopsis
- - Dopa-responsive dystonia (DRD) is a genetic disorder characterized by symptoms similar to Parkinson's disease and dystonia, caused by changes in the GCH1 gene affecting dopamine production.
- - This case report is unique as it connects childhood-onset DRD with amyotrophic lateral sclerosis (ALS), indicating a potential link between these two conditions.
- - The findings suggest that the diverse genetic backgrounds in the North African population might play a role in the occurrence of multiple related disorders.
Striatal cell-type-specific molecular signatures reveal therapeutic targets in a model of dystonia.
bioRxiv
October 2024
Department of Pharmacology and Chemical Biology, Emory University, Atlanta, GA, USA.
Article Synopsis
- Striatal dysfunction is linked to various types of dystonia, such as idiopathic and inherited forms, with the striatum housing different types of GABAergic neurons that control movement.
- Research using a model of DOPA-responsive dystonia (DRD) revealed that dSPNs and iSPNs exhibit distinct molecular changes that contribute to the disorder, highlighting a specific dysregulation in glutamatergic signaling for both neuron types.
- The differences in how these neurons adapt due to dopamine deficiencies suggest potential biochemical targets for therapies, emphasizing that the impact of dopamine loss on movement disorders varies depending on the timing and the specific neuron type affected.
Neuroregression in Two Siblings Due to Dopa-Responsive Dystonia (DRD)- Plus.
Indian J Pediatr
December 2024
Department of Pediatric Neurology, Amrita Institute of Medical Sciences, Faridabad, Haryana, 121002, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!