Dopa-Responsive Dystonia Latest Advances

Find the Latest Research About Dopa-Responsive Dystonia

Last Updated: 06/30/2026

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Found 164 publications

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 24, 2026

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

Journal: Molecular genetics and metabolism
Published: November 19, 2025

Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.

Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.

Journal: Neuropediatrics
Published: November 14, 2025

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 09, 2025

Long-Term Outcomes in Tyrosine Hydroxylase Deficiency: A Case Series of Four Paediatric Patients.

Long-Term Outcomes in Tyrosine Hydroxylase Deficiency: A Case Series of Four Paediatric Patients.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: August 05, 2025

L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.

L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.

Journal: Neurogenetics
Published: March 25, 2025

Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia-Until It Isn't.

Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia-Until It Isn't.

Journal: Neurology
Published: February 27, 2025

Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.

Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.

Journal: Neurobiology of disease
Published: February 17, 2025

Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.

Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 31, 2025

Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.

Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 29, 2024

Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.

Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.

Journal: Annals of clinical and translational neurology
Published: November 20, 2024

Functional movement disorders in dopa-responsive dystonia.

Functional movement disorders in dopa-responsive dystonia.

Journal: Parkinsonism & related disorders
Published: September 19, 2024
Showing 1-12 of 164

Last Updated: 06/30/2026