Results 41 to 50 of about 7,620,483 (116)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Molecular dissection and anatomical basis of dystonia : X-linked recessive dystonia-parkinsonism (DYT3) [PDF]

, 2005
Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism.
タミヤ, ゲン, 00214304, アンドウ, サトシ, 50240916, Kaji, Ryuji, Ando, Satoshi, マキノ, サトシ, ゴトウ, サトシ, 1622, 388, Makino, Satoshi, カジ, リュウジ, Goto, Satoshi, 梶, 龍兒, Tamiya, Gen, 60224/profile-ja.html, Lee, LV, 後藤, 惠   +17 more
core  

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

Cell Reports, 2023
Summary: Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a primary example of cell-type specificity in neurodegenerative diseases.
Aaron Held, Michelle Adler, Christine Marques, Charles Jourdan Reyes, Amey S. Kavuturu, Ana R.A.A. Quadros, I. Sandra Ndayambaje, Erika Lara, Michael Ward, Clotilde Lagier-Tourenne, Brian J. Wainger   +10 more
doaj   +1 more source

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller, Abhimanyu Mahajan, Christopher B. Morrow, Joseph F. McGuire, Dawn Bowers, Kelly A. Mills, Gregory M. Pontone   +6 more
wiley   +1 more source

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.
FABBRINI G, VACCA L, VALENTE EM, MEESAQ A, F. BRANCATI, NEMETH A, SYKES N, DALLAPICCOLA B, BERARDELLI A   +8 more
core   +3 more sources

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Clinical Outcome Assessments in Movement Disorders: A Scoping Review of Current Rating Scales and Future Needs Beyond Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Clinical outcome assessments (COA) are essential for evaluating symptom severity, treatment response, and disease progression in movement disorders. As clinical knowledge evolves, it is necessary to ensure COAs continued relevance and validity.
Panagiota Tsitsi, Evita Papathoma, Nirosen Vijiaratnam, Camila Aquino, Stephen R. Duma, Norbert Kovacs, Kigocha Lameck Okeng'o, Aparna Wagle Shukla, Roongroj Bhidayasiri, Alberto J. Espay, Tiago A. Mestre, Alvaro Sanchez Ferro, Michelle H.S. Tosin, Matej Skorvanek, Ioanna Markaki   +14 more
wiley   +1 more source

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

, 2016
X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is ...

core   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +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   +1 more source