Cargando…

Identification of TH Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes

Background: Dopa-responsive dystonia (DRD) is a movement disorder that is highly clinically and genetically heterogeneous. Our study summarizes clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia with the aim of obtaining further knowledge on this disorder. Meth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Xin-yao, Yang, Ying-mai, Li, Li-bo, Zhang, Meng-yu, Huang, Yang-yu, Wang, Jie, Wang, Lin, Wan, Xin-hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8149779/ https://www.ncbi.nlm.nih.gov/pubmed/34054692 http://dx.doi.org/10.3389/fneur.2021.644910

Ejemplares similares

Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia
por: Wang, Xue, et al.
Publicado: (2022)

Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing
por: Ma, Jun, et al.
Publicado: (2019)

PARK2 Patient Presenting with Dopa-Responsive Dystonia
por: Yoshii, Fumihito, et al.
Publicado: (2021)

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case–Control Study
por: Li, Shanglin, et al.
Publicado: (2020)

ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing
por: Li, Shanglin, et al.
Publicado: (2020)

Polymorphism of the Dopa-Decarboxylase Gene Modifies the Motor Response to Levodopa in Chinese Patients With Parkinson's Disease
por: Li, Lanting, et al.
Publicado: (2020)

Cognitive impairment in Chinese patients with cervical dystonia
por: Liu, Kuncheng, et al.
Publicado: (2022)

Dystonia-like behaviors and impaired sensory–motor integration following neurotoxic lesion of the pedunculopontine tegmental nucleus in mice
por: Su, Jun-Hui, et al.
Publicado: (2023)

Dystonia and the pedunculopontine nucleus: Current evidences and potential mechanisms
por: Su, Jun-hui, et al.
Publicado: (2022)

Atypical presentation of dopa‐responsive dystonia in Taiwan
por: Weng, Yi Ching, et al.
Publicado: (2018)

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease
por: Lewthwaite, A.J., et al.
Publicado: (2015)

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia
por: Chen, Yan, et al.
Publicado: (2020)

Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing
por: Sun, Zhan-fang, et al.
Publicado: (2014)

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report
por: Feng, Bangzhe, et al.
Publicado: (2018)

A Case of Dopa Responsive Dystonia Presenting as Isolated Foot Dystonia
por: Verma, Rajesh, et al.
Publicado: (2022)

Case Report: Migraine-Induced Dystonia of the Lower Extremities
por: Jiang, Ting, et al.
Publicado: (2022)

Neuropsychological Difficulties Associated with Dopa Responsive Dystonia
por: Baskaran, Dhinesh, et al.
Publicado: (2018)

Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia
por: Wang, Maggie, et al.
Publicado: (2018)

Altered Structural Brain Network Topology in Patients With Primary Craniocervical Dystonia
por: Wang, Xiu, et al.
Publicado: (2022)

Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH
por: Yang, Kunfang, et al.
Publicado: (2018)

Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders
por: Lee, Woong-Woo, et al.
Publicado: (2014)

Amyotrophic onset in GCH1 dopa-responsive dystonia
por: Habibi, Seyed Amir Hasan, et al.
Publicado: (2019)

Time estimation and arousal responses in dopa-responsive dystonia
por: Becker, Leonie F., et al.
Publicado: (2022)

Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia
por: Arora, Anshita, et al.
Publicado: (2022)

Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset
por: Deng, Wei-Ping, et al.
Publicado: (2021)

Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments
por: Frucht, Lucy, et al.
Publicado: (2021)

Dopa-Responsive Dystonia in a Ten-Year-Old Girl
por: Soma, Venkatesh, et al.
Publicado: (2012)

Dopa-responsive Dystonia in a Child Misdiagnosed as Cerebral Palsy
por: Kulshreshtha, Dinkar, et al.
Publicado: (2017)

Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia
por: Alves Júnior, Ailton C., et al.
Publicado: (2022)

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China
por: Yang, Wen-Yi, et al.
Publicado: (2022)

Zolpidem for the Treatment of Dystonia
por: Badillo, Stephanie Patricia J., et al.
Publicado: (2019)

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
por: Wang, Wendi, et al.
Publicado: (2020)

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
por: Kim, Taewoo, et al.
Publicado: (2023)

Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry
por: Di Biasio, Francesca, et al.
Publicado: (2020)

Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency.
por: Jeon, B. S.
Publicado: (1997)

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
por: Krim, Elsa, et al.
Publicado: (2018)

Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review
por: Mishra, Shubhankar, et al.
Publicado: (2020)

Abnormal Network Homogeneity in the Right Superior Medial Frontal Gyrus in Cervical Dystonia
por: Wei, Shubao, et al.
Publicado: (2021)

Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia
por: Fossbakk, Agnete, et al.
Publicado: (2014)

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe
por: Smit, Marenka, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_dm73t07emvtriuo1qcm0d3p490