Results 71 to 80 of about 5,489 (166)

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

, 1999
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 ...
Monaco, AP, Dunne, E, Cox, RD, Müller, U, Kostrzewa, M, Monaco, Anthony, Levy, ER, Butler, R, Niemann, S, Peters, U, Ropers, HH, Bochukova, E, Németh, AH, Brown, J, Nolte, D, Fraser, E   +15 more
core   +1 more source

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase a3 missense mutant mice [PDF]

, 2013
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature
Edwards, Ian J., Susan H Fox, Kirshenbaum, Greer S., Mullins, Jonathan G. L., Pratt, Judith A, Kirshenbaum, Greer S, Mark J Drinkhill, Roder John C., Greer S Kirshenbaum, Drinkhill Mark J., Jonathan G L Mullins, Jonathan M. Brotchie (355205), Clapcote, Steven J., Brotchie, Jonathan M, Brotchie, Jonathan M., Edwards, Ian, Tom H Johnston, Mullins, Jonathan, Roder, John, Jonathan M Brotchie, Roder, John C., Ian J Edwards, Mullins, Jonathan G L, Neil Dawson (392035), Kirshenbaum, Greer, Johnston Tom H., Johnston, Tom H., Judith A Pratt, Mark J. Drinkhill (392036), Pratt, Judith, Fox, Susan H., Susan H. Fox (306673), Dawson, Neil, Roder, John C, Pratt Judith A., Brotchie Jonathan M., Fox Susan H., Drinkhill, Mark J., Johnston, Tom H, Clapcote, Stephen, Jonathan G. L. Mullins (215855), John C. Roder (109647), Mullins Jonathan G. L., Greer S. Kirshenbaum (392034), Tom H. Johnston (306667), Kirshenbaum Greer S., Fox, Susan, Johnston, Tom, Steven J Clapcote, Brotchie, Jonathan, Drinkhill, Mark, Fox, Susan H, Drinkhill, Mark J, Neil Dawson, Judith A. Pratt (392038), Ian J. Edwards (392037), Steven J. Clapcote (392039), Pratt, Judith A., John C Roder, Dawson Neil, Edwards, Ian J, Edwards Ian J., Clapcote, Steven J, Clapcote Steven J.   +63 more
core   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data

Scientific Reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment.
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen   +7 more
doaj   +1 more source

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Molecular Genetics & Genomic Medicine, 2020
Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia ...
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu   +6 more
doaj   +1 more source

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) [PDF]

European Journal of Human Genetics, 2015
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these is still not unequivocally determined.
Domingo, A., Westenberger, A., Lee, L., Braenne, I., Liu, T., Vater, I., Rosales, R., Jamora, R., Pasco, P., Cutiongco-de la Paz, E., Freimann, K., Schmidt, T., Dressler, D., Kaiser, F., Bertram, L., Erdmann, J., Lohmann, K., Klein, C.   +17 more
openaire   +3 more sources

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

, 2021
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes.
Joos Berghausen, Pilar Alvarez Jerez, Sara Bandres-Ciga, Monica Diez-Fairen   +3 more
core   +1 more source

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

Movement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze   +33 more
wiley   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source