Results 51 to 60 of about 3,520 (162)

levels in X‐linked dystonia‐parkinsonism

, 2018
Background: The most likely genetic cause of X‐linked dystonia‐parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672‐bp‐long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to
Rolfs, A, Sally A. Cowley, Norbert Brüggemann, Rakovic, A, Philipp Capetian, Rosales, R, Insa Lenz, Karen Grütz, Brüggemann, N, Ana Westenberger, Cowley, Sally, Jamora, D, Capetian, P, Inke König, Westenberger, A, Cowley, SA, Arndt Rolfs, Lenz, I, Klein, C, Domingo, A, Kulikovskaja, L, Dominic Jamora, Seibler, P, Aleksandar Rakovic, König, I, Raymond Rosales, Grütz, K, Christine Klein, Philip Seibler, Aloysius Domingo, Leonora Kulikovskaja   +30 more
core   +1 more source

Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model

Molecular Therapy: Nucleic Acids
DYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (ΔGAG) in the TOR1A gene. This study demonstrates a gene-editing approach that selectively targets the ΔGAG mutation in the TOR1A DYT1 allele while ...
Katia E. Maalouf, Dawn Madison Frederick, Nutan Sharma, Edwina Abou Haidar, Tianhe Xiao, Justin Seungkyu Han, Mohammed S. Mahamdeh, Roy J. Soberman, David Rufino-Ramos, Benjamin P. Kleinstiver, Hyder A. Jinnah, Christine A. Vaine, D. Cristopher Bragg, Koen Breyne   +13 more
doaj   +1 more source

Postnatal Conditional Deletion of Bcl11b in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington’s Disease

Biomedicines, 2022
The dysregulation of striatal gene expression and function is linked to multiple diseases, including Huntington’s disease (HD), Parkinson’s disease, X-linked dystonia-parkinsonism (XDP), addiction, autism, and schizophrenia. Striatal medium spiny neurons
Sicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, Kizito-Tshitoko Tshilenge, B. Wade Hamilton, Akos A. Gerencser, Houda Benlhabib, Maria-Daniela Cirnaru, Mark Leid, Sean D. Mooney, Lisa M. Ellerby, Michelle E. Ehrlich   +11 more
doaj   +1 more source

Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)

, 2010
<i>Background:</i> X-linked dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset hereditary progressive dystonia/parkinsonism which is typically minimally responsive to pharmacological treatment.
Pam Zeilman, Charles E. Jacobson, IV, Genko Oyama, Ramon L. Rodriguez, Irene A. Malaty, Hubert H. Fernandez, Kelly D. Foote, Nelson Hwynn, Michael S. Okun   +8 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers. [PDF]

Mov Disord Clin Pract
ABSTRACTBackgroundX‐linked dystonia‐parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored.ObjectivesTo investigate the bioenergetic state in male patients with XDP and female carriers using ...
Prasuhn J, Henkel J, Algodon SM, Uter J, Rosales RL, Klein C, Steinhardt J, Diesta CC, Brüggemann N.   +8 more
europepmc   +3 more sources

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders

Frontiers in Molecular Biosciences, 2022
The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA transporters in the central nervous system.
Florian P. Fischer, Florian P. Fischer, Ameya S. Kasture, Thomas Hummel, Sonja Sucic   +4 more
doaj   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP)

Frontiers in Neurology, 2019
Background: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disease endemic to Filipinos with maternal lineage from Panay Island, Philippines. Patients present with dystonia concurrent with or followed by parkinsonism. Non-motor symptoms also
Nicole B. Aliling, Adovich S. Rivera, Roland Dominic G. Jamora, Roland Dominic G. Jamora   +3 more
doaj   +1 more source

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