Results 141 to 150 of about 7,623,875 (163)

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

Annals of Neurology, 2019
Objective X‐linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon insertion in TAF1 . Recently, a (CCCTCT) n repeat
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, Valerija Dobricic, Henrike Hanssen, Aloysius Domingo, Björn‐Hergen Laabs, Susen Schaake, Jelena Pozojevic, Aleksandar Rakovic, Karen Grütz, Kimberly Begemann, Uwe Walter, Dirk Dressler, Peter Bauer, Arndt Rolfs, Alexander Münchau, Frank J. Kaiser, Laurie J. Ozelius, Roland Dominic Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Katja Lohmann, Inke R. König, Norbert Brüggemann, Christine Klein   +25 more
openaire   +2 more sources

A Scoping Review on the Diagnosis and Treatment of X-Linked Dystonia-Parkinsonism

Parkinsonism and Related Disorders
X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been studied well in recent years.This scoping review aimed to describe the current state of knowledge about the diagnosis and treatment of XDP, to provide clinicians with a concise and up-to-date overview.We conducted a scoping review of pertinent literature on ...
Roland Dominic Jamora, Anisah Hayaminnah D Alonto   +1 more
exaly   +3 more sources

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Cellular and Molecular Life Sciences, 2016
The molecular dysfunction in X-linked dystonia-parkinsonism is not completely understood. Thus far, only noncoding alterations have been found in genetic analyses, located in or nearby the TATA-box binding protein-associated factor 1 (TAF1) gene. Given that this gene is ubiquitously expressed and is a critical component of the cellular transcription ...
Aloysius Domingo, David Amar, Karen Grütz, Lillian V. Lee, Raymond Rosales, Norbert Brüggemann, Roland Dominic Jamora, Eva Cutiongco-dela Paz, Arndt Rolfs, Dirk Dressler, Uwe Walter, Dimitri Krainc, Katja Lohmann, Ron Shamir, Christine Klein, Ana Westenberger   +15 more
openaire   +2 more sources

Phenotypic expression of X‐linked dystonia‐parkinsonism (lubag) in two women

Neurology, 1993
Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers.
C H, Waters, H, Takahashi, K C, Wilhelmsen, R, Shubin, B J, Snow, T G, Nygaard, C B, Moskowitz, S, Fahn, D B, Calne   +8 more
openaire   +2 more sources

Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia-Parkinsonism

World Neurosurgery, 2014
X-linked dystonia-parkinsonism (XDP) is a progressively debilitating movement disorder that begins with focal dystonia and eventually generalizes. It exclusively affects Filipino inhabitants of the island of Panay. We report a case of XDP successfully treated by deep brain stimulation (DBS) and review the literature.A 36-year-old man with XDP failed ...
Akash J, Patel, Aliya I, Sarwar, Joseph, Jankovic, Ashwin, Viswanathan   +3 more
openaire   +2 more sources

Striatal dysfunction in X‐linked dystonia‐parkinsonism is associated with disease progression

European Journal of Neurology, 2017
Background and purposeX‐linked dystonia‐parkinsonism (XDP) is an inherited neurodegenerative adult‐onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP.MethodsPre ...
N, Brüggemann, R L, Rosales, J L, Waugh, A J, Blood, A, Domingo, M, Heldmann, R D, Jamora, A, Münchau, T F, Münte, L V, Lee, I, Buchmann, C, Klein   +11 more
openaire   +2 more sources

Nigrostriatal dysfunction in X‐linked dystonia‐parkinsonism (DYT3)

Movement Disorders, 2007
Björn, Tackenberg, Aline, Metz, Marcus, Unger, Nicole, Schimke, Sebastian, Passow, Helmut, Hoeffken, Georg F, Hoffmann, Ulrich, Müller, Dagmar, Nolte, Wolfgang H, Oertel, Karla, Eggert, Jens Carsten, Möller   +11 more
openaire   +2 more sources

Pathological Gambling in X-Linked Dystonia Parkinsonism

Journal of Addiction Medicine, 2013
openaire   +2 more sources

TAF1 expression in X-Linked Dystonia-Parkinsonism (534)

Neurology, 2020
Jamal Al Ali, Shivangi Shah, Christine A. Vaine, Naoto Ito, William Hendriks, Benjamin Currall, Michael Talkowski, Laurie Ozelius, Cristopher Bragg, Xandra Breakefield   +9 more
openaire   +1 more source

Striatal Cholinergic Dysregulation After Neonatal Decrease in X-Linked Dystonia Parkinsonism-Related TAF1 Isoforms

Movement Disorders, 2021
Michelle E Ehrlich, Jaime L Watson, Lisa M Ellerby   +2 more
exaly