Article
Clinical Neurology
Anne Weissbach, Annika Steinmeier, Martje Pauly, Duha M. Al-Shorafat, Gerard Saranza, Anthony Lang, Norbert Brueggemann, Vera Tadic, Christine Klein, Alexander Muenchau, Tobias Baeumer, Matt J. N. Brown
Summary: This study examined sensorimotor inhibition in GCH1 mutation carriers and found that their short-latency afferent inhibition (SAI) and dual-site transcranial magnetic stimulation (ds-TMS) levels were not significantly different from the control group. However, SAI decreased over time in mutation carriers off dopamine replacement therapy (DRT). These results suggest changes in plasticity in the sensorimotor networks.
PARKINSONISM & RELATED DISORDERS
(2022)
Review
Health Care Sciences & Services
Gyrid Nygaard, Peter D. Szigetvari, Ann Kari Grindheim, Peter Ruoff, Aurora Martinez, Jan Haavik, Rune Kleppe, Marte Flydal
Summary: Dopa-responsive dystonia (DRD) is a rare movement disorder linked to defective dopamine synthesis, mainly associated with mutations in the GCH1 gene. However, some patients do not respond well to L-DOPA treatment, especially in severe cases of TH deficiency. This highlights the need for more effective and personalized treatment options.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Editorial Material
Clinical Neurology
Amal Abu Libdeh, Ahmed Ibrahim
Summary: This is a case of a 6-year-old girl presenting with progressive gait abnormality for 3 years, with normal milestones in fine motor, speech, and social skills.
Review
Clinical Neurology
Anne Weissbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brueggemann, Hans-Juergen Huppertz, Inke R. Koenig, Christine Klein, Katja Lohmann
Summary: By analyzing a large number of DRD patients and asymptomatic GCH1 mutation carriers, specific phenotypic and biochemical characteristics were identified, which can aid in the rapid diagnosis and initiation of treatment.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Xin-yao Li, Ying-mai Yang, Li-bo Li, Meng-yu Zhang, Yang-yu Huang, Jie Wang, Lin Wang, Xin-hua Wan
Summary: This study summarized the clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia who were treated with levodopa. Most patients showed satisfactory treatment outcomes after long-term levodopa, while a few patients with specific variants developed new motor symptoms, possibly due to dopamine insufficiency. Increasing levodopa dose slowly may be helpful for patients with motor symptoms after long-term treatment.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Jun Ikezawa, Rui Shimazaki, Shinsuke Tobisawa, Keizo Sugaya, Kazushi Takahashi
Summary: SCA6 typically presents with cerebellar ataxia and rarely with extra-pyramidal symptoms. We report the first case of SCA6 with dopa-responsive dystonia. A 75-year-old woman presented with progressive cerebellar ataxia and dystonia in the left upper limb. Genetic testing confirmed SCA6 diagnosis. Oral levodopa improved her dystonia, allowing her to raise her left hand. Oral levodopa may be beneficial in the early treatment of SCA6-associated dystonia.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Psychiatry
Raymond A. Clarke, Teri M. Furlong, Valsamma Eapen
Summary: Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics, with high rates of inheritance and involvement of mitochondrial pathways. Mutations in genes related to mitochondrial dynamics and function may contribute to the pathogenesis of GTS.
FRONTIERS IN PSYCHIATRY
(2021)
Review
Clinical Neurology
Ajith Cherian, Naveen Kumar Paramasivan, K. P. Divya
Summary: Dopa-responsive dystonia (DRD) and DRD plus are diseases of the dopamine pathway with diverse presentations. While levodopa is the main therapy, some cases may have unsatisfactory response and require alternative treatments. Prompt management of hyperphenylalaninemia can lead to significant improvement in motor and cognitive functions.
ACTA NEUROLOGICA BELGICA
(2021)
Article
Clinical Neurology
Xue Wang, Shanshan Mei, Zichen Tian, Lin Wang, Guiliang Hao, Xin Zhu, Wei Mao, Jianyu Li
Summary: Dopa-responsive dystonia (DRD) is a movement disorder with genetic and clinical heterogeneity, characterized by a dramatic response to levodopa. This study presents the clinical outcome of pallidal stimulation in a DRD patient who had a poor response to levodopa. The results show that pallidal stimulation leads to promising clinical outcomes for levodopa-resistant DRD.
FRONTIERS IN NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Justin L. Blaty, Lourdes M. DelRosso
Summary: Healthy sleep is crucial for growth, development, and overall health. Patients, especially children, with Tourette Disorder (TD), experience negative effects on sleep. Common sleep abnormalities in TD include decreased total sleep time, lower sleep efficiency, and higher arousal index. TD is often associated with Attention Deficit Hyperactivity Disorder (ADHD), which further worsens sleep quality. Treatment of TD is essential for improving sleep in these patients.
BIOMEDICAL JOURNAL
(2022)
Review
Genetics & Heredity
Yun Chen, Kaiyu Liu, Zailan Yang, Yaozhou Wang, Hao Zhou
Summary: Dopa-responsive dystonia (DRD) is a rare but treatable dystonia characterized by diurnal fluctuation. Mutations in the GCH1 gene are the most common cause of DRD. This study describes a Chinese patient with severe truncal hypotonia and motor developmental regression, but without diurnal fluctuation and hyperphenylalaninemia. Treatment with levodopa/carbidopa resulted in complete remission of symptoms and normal neurological development. Homozygous GCH1 variant was identified in this patient, expanding the spectrum of DRD phenotypes. Autosomal recessive DRD should be considered in patients with severe truncal hypotonia, even in the absence of limb dystonia and hyperphenylalaninemia.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Elze R. Timmers, Martijn van Faassen, Marenka Smit, Anouk Kuiper, Ingrid H. Hof, Ido P. Kema, Marina A. J. Tijssen, Klary E. Niezen-Koning, Tom J. de Koning
Summary: This study revealed alterations in dopaminergic and serotonergic metabolism in patients with dystonia, with subtype-specific changes. Low levodopa concentrations, but not serotonin metabolites, were associated with both motor and non-motor symptoms.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Stefanie Bartha, Annet Bluschke, Tina Rawish, Kim E. R. Naumann, Paul Wendiggensen, Tobias Baeumer, Veit Roessner, Alexander Muenchau, Christian Beste
Summary: The occurrence of motor/vocal tics is the leading diagnostic criterion for tic disorders. However, extra movements are also common in healthy controls, questioning the usefulness of diagnostic criteria in clinical practice. It is not solely a surplus of movements that defines tic disorders, but rather movement characteristics and patterns.
ANNALS OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Wei-De Lin, Fuu-Jen Tsai, I-Ching Chou
Summary: Gilles de la Tourette syndrome (TS) is a common childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. Genetic factors and environmental factors play a role in the etiology of TS, and several genes and loci have been associated with the disorder. Copy number variations are considered significant sources of mutations in TS. Further research is needed to understand the underlying mechanisms and improve prognosis and treatment options for TS.
BIOMEDICAL JOURNAL
(2022)
Article
Chemistry, Multidisciplinary
Caiyan Zhao, Jingxiao Chen, Jiamin Ye, Zhi Li, Lichao Su, Junqing Wang, Ye Zhang, Jinghua Chen, Huanghao Yang, Jinjun Shi, Jibin Song
Summary: Researchers have synthesized PEGylated, phenylboronic acid modified L-DOPA pro-antioxidant nanoparticles (pPADN) that effectively release the model glucocorticoid dexamethasone in response to inflammation, leading to significant mitigation of synovial inflammation and joint destruction in a rat osteoarthritis model with minimal toxicity. Furthermore, the in situ structural transformation also allows for noninvasive monitoring of therapeutic effects as a photoacoustic imaging contrast agent.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2021)
