Results 81 to 90 of about 5,463 (156)

A novel family with an unusual early-onset generalized dystonia.

, 2005
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs.
Giovanni Fabbrini, Laura Vacca, VALENTE, ENZA MARIA, Angela Meesaq, Sykes, N, Nemeth, A, Francesco Brancati, Bruno Dallapiccola, Dallapiccola, B, Nuala Sykes, Alfredo Berardelli, Fabbrini, G, Vacca, L, Enza Maria Valente, Nemeth, Andrea, Andrea Nemeth, Valente, EM, Berardelli, A., Brancati, F, Meesaq, A, Berardelli, A   +20 more
core   +3 more sources

Convergence Deficits in Myoclonus‐Dystonia Point to Cerebellar Impairment

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1488-1495, June 2026.
Abstract Background Myoclonus‐dystonia (M‐D) is a monogenic movement disorder, with proposed cerebellar dysfunction. Vergence eye movement deficits, characteristics of degenerative cerebellar disease, have not been studied in M‐D. Cerebellar transcranial alternating current stimulation (tACS) is considered a potential therapeutic approach.
Skadi Gerkensmeier, Christina Bolte, Jan‐Ole Radecke, Feline Hamami, Andreas Sprenger, Christoph Helmchen, Robert Chen, Marcus Callister, Talyta Cortez Grippe, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weissbach   +13 more
wiley   +1 more source

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

, 1994
The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS106,
Fairweather, ND, Müller, U, FAIRWEATHER, N, Wagner, T, Haberhausen, G, Chelly, J, Monaco, Anthony, Fairweather, Nicholas, MONACO, A, Chelly, Jamel, Haberhausen, Gerd, Müller, Ulrich, Wagner, Torsten   +12 more
core   +1 more source

Long-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism.

, 2018
BACKGROUND: X-linked dystonia parkinsonism (XDP) causes adult-onset progressive dystonia and parkinsonism, which may not respond to pharmacotherapy. OBJECTIVE: Previous case reports have reported beneficial effects from bilateral pallidal (GPi) deep ...
Witt, Jennifer, Glass, Graham A, Heath, Susan, Galifianakis, Nicholas B, Starr, Philip A, Volz, Monica, Ostrem, Jill Louise, Kilbane, Camilla   +7 more
core  

Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

, 2007
X-linked dystonia-parkinsonism (XDP) is a movement disorder endemic to the Philippines. The disease locus, DYT3, has been mapped to Xq13.1. In a search for the causative gene, we performed genomic sequencing analysis, followed by expression analysis of ...
Tabuena, Ma. Daisy, Tomizawa, Maiko, Matsumoto, Shinnichi, Tooyama, Ikuo, Kaji, Ryuji, Ando, Satoshi, Maranon, Elma, Makino, Satoshi, Dantes, Marita, Ogasawara, Kazumasa, Goto, Satoshi, Lee, Lillian V., Nishimura, Masataka, Tamiya, Gen, Yasuno, Katsuhito, Akatsu, Hiroyasu   +15 more
core   +1 more source

Temporal Dynamics of Parkinson's Disease Tremor: Clinical and Neuroimaging Insights

Movement Disorders, Volume 41, Issue 6, Page 1456-1466, June 2026.
Abstract Background Parkinson's disease (PD) is a progressive neurodegenerative disorder clinically defined by three cardinal motor symptoms: bradykinesia, rigidity, and tremor. Although the natural history of bradykinesia and rigidity is well described, the evolution of tremor as the disease progresses remains controversial. Objectives The goal was to
Melanie Suette, Robert Matic, Marisa Koini, Lukas Gattermeyer‐Kell, Daniela Kern, Petra Katschnig‐Winter, Mariella Koegl, Maximilian Sackl, Christian Tinauer, Birgit Helmlinger, Manuel Leitner, Stefan Ropele, Daniela Pinter, Christian Enzinger, Stephan Seiler, Petra Schwingenschuh   +15 more
wiley   +1 more source

Macroscale Gradient‐Informed Neural Oscillation Topography in Parkinson's Disease

Movement Disorders, Volume 41, Issue 6, Page 1434-1444, June 2026.
Abstract Background Parkinson's disease (PD) is characterized by large‐scale disruptions in beta and gamma oscillations. Although subcortical beta power is an established biomarker for current adaptive deep brain stimulation (aDBS), it may not fully capture the global pathophysiological burden and the macroscale hierarchical reorganization of the ...
Hao Ding, Ke Xie, Manuel Bange, Hannah Kühne, Jenny Blech, Bahman Nasseroleslami, Jens Volkmann, Sergiu Groppa, Muthuraman Muthuraman   +8 more
wiley   +1 more source

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, Volume 4, Issue 2, Page 111-130, June 2026.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source

The roles of TAF1 in neuroscience and beyond

Royal Society Open Science
The transcriptional machinery is essential for gene expression and regulation; dysregulation of transcription can result in a range of pathologies, including neurodegeneration, cancer, developmental disorders and cardiovascular disease.
Elisa M. Crombie, Karen Cleverley, H. T. Marc Timmers, Elizabeth M. C. Fisher   +3 more
doaj   +1 more source

Differential Effect of Helicobacter pylori Eradication on Time-Trends in Brady/Hypokinesia and Rigidity in Idiopathic Parkinsonism

, 2010
Background: We examine the effect of eradicating Helicobacter in idiopathic parkinsonism (IP). Marked deterioration, where eradication-therapy failed, prompted an interim report in the first 20 probands to reach de-blinding.
Bjarnason, IT, Lawson, Andrew J., Dobbs, RJ, Dobbs, R. John, Lucy Harbin, Ibrahim, Mohammad A. A.; id_orcid, Peterson, Dale W., Ibrahim, MA, J. Malcolm Plant, Smee, Cori, Daniel Leckstroem, Plant, JM, Charlett, A, Harbin, Lucy, Lawson, AJ, Bowthorpe, James, Ingvar T. Bjarnason, Mohammad A. A. Ibrahim, Price, AB, André Charlett, Clive Weller, Smee, C, Dobbs, Sylvia M., James Bowthorpe, Dale W. Peterson, Letley, Darren, Leckstroem, Daniel, Charlett, Andre, Weller, C, Andrew J. Lawson, Dobbs, SM, R. John Dobbs, Harbin, L, Letley, D, Price, Ashley B., Bjarnason, Ingvar T., Peterson, DW, Norman L. Oxlade, Weller, Clive, Bowthorpe, J, Ashley B. Price, Oxlade, NL, Oxlade, Norman L., Sylvia M. Dobbs, Plant, J. Malcolm, Darren Letley, Leckstroem, D, Cori Smee   +47 more
core   +1 more source