Results 31 to 40 of about 3,520 (162)

Depression in X-linked dystonia-parkinsonism: A case-control study [PDF]

Parkinsonism & Related Disorders, 2013
X-linked dystonia-parkinsonism (XDP), also known as lubag, was originally described as endemic to Panay, Philippines [ [1] ]. XDP demonstrates a primary and progressive neuronal degeneration of the striatum and is characterized by an adult-onset movement
Nakataki, Masahito, Morigaki, Ryoma, Mure, Hideo, Ohmori, Tetsuro, Teleg, Rosalia A., Kawarai, Toshitaka, Tabuena, Ma. Daisy P., Kaji, Ryuji, Nagahiro, Shinji, Pasco, Paul Matthew D., Goto, Satoshi, Lee, Lillian V., Iga, Junichi, Sako, Wataru   +13 more
core   +3 more sources

ZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP). [PDF]

Proc Natl Acad Sci U S A
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder resulting from an inherited intronic SINE-Alu-VNTR (SVA) retrotransposon in the TAF1 gene that causes dysregulation of TAF1 transcription.
Rosenkrantz JL, Brandorff JE, Raghib S, Kapadia A, Vaine CA, Bragg DC, Farmiloe G, Jacobs FMJ.   +7 more
europepmc   +2 more sources

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. [PDF]

Genes (Basel), 2022
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J.   +17 more
europepmc   +2 more sources

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

The Journal of Medical Investigation, 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   +5 more sources

X-linked dystonia-parkinsonism: over and above a repeat disorder. [PDF]

Med Genet, 2021
Abstract X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other ...
Pozojevic J, Cruz JN, Westenberger A.
europepmc   +4 more sources

Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism. [PDF]

J Voice, 2023
Song SA, Go CL, Acuna PB, De Guzman JKP, Sharma N, Song PC.   +5 more
europepmc   +2 more sources

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. [PDF]

Acta Neuropathol Commun, 2022
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC.   +24 more
europepmc   +2 more sources

X-Linked Dystonia-Parkinsonism: recent advances. [PDF]

Curr Opin Neurol, 2019
Purpose of review Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain stimulation (DBS). This review provides a concise summary of these studies.
Bragg DC, Sharma N, Ozelius LJ.
europepmc   +4 more sources

Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism. [PDF]

CNS Neurosci Ther
ABSTRACT Aims Although the genetic locus of X‐linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well‐characterized, the exact mechanisms leading to neuronal loss are not yet fully understood.
Petrozziello T, Motlagh NJ, Monsanto RZB, Lei D, Murcar MG, Penney EB, Bragg DC, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz E, Ang MC, Diesta CCE, Zhang C, Tanzi RE, Qureshi IA, Chen JW, Sadri-Vakili G.   +17 more
europepmc   +4 more sources

X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity [PDF]

, 2021
X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which ...
Estevez-Fraga C., Pisani A., Magrinelli F., Valente E. M., Bhatia K. P., Di Lazzaro G.   +5 more
core   +2 more sources