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2002 1
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Page 1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
Jia F, Fellner A, Kumar KR. Jia F, et al. Genes (Basel). 2022 Mar 7;13(3):471. doi: 10.3390/genes13030471. Genes (Basel). 2022. PMID: 35328025 Free PMC article. Review.
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X-linked dystonia parkinsonism. Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2 …
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X- …
Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism.
Zaninotto AL, de Guzman JK, Stipancic KL, Perry BJ, Supnet ML, Go C, Sharma N, Green JR. Zaninotto AL, et al. Parkinsonism Relat Disord. 2021 Aug;89:105-110. doi: 10.1016/j.parkreldis.2021.07.006. Epub 2021 Jul 9. Parkinsonism Relat Disord. 2021. PMID: 34274618
INTRODUCTION: X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the devastating impairment of bulbar function, including speech and swallowing. ...
INTRODUCTION: X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the deva …
Oral diadochokinetic markers of X-linked dystonia-parkinsonism.
Kao TH, Rowe HP, Green JR, Stipancic KL, Sharma N, de Guzman JK, Supnet-Wells ML, Acuna P, Perry BJ. Kao TH, et al. Parkinsonism Relat Disord. 2024 Mar;120:105991. doi: 10.1016/j.parkreldis.2024.105991. Epub 2024 Jan 4. Parkinsonism Relat Disord. 2024. PMID: 38184995
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. ...
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe spe …
Combined dystonias: clinical and genetic updates.
Weissbach A, Saranza G, Domingo A. Weissbach A, et al. J Neural Transm (Vienna). 2021 Apr;128(4):417-429. doi: 10.1007/s00702-020-02269-w. Epub 2020 Oct 24. J Neural Transm (Vienna). 2021. PMID: 33099685 Review.
Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-parkinsonism (XDP, DYT/PARK-TAF1), and young-onset dystonia-parkinsonism (DYT/PARK-PRKRA) are monogenic combined dystonias accompanied by p …
Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-par …
Isolated dystonia: clinical and genetic updates.
Domingo A, Yadav R, Ozelius LJ. Domingo A, et al. J Neural Transm (Vienna). 2021 Apr;128(4):405-416. doi: 10.1007/s00702-020-02268-x. Epub 2020 Nov 27. J Neural Transm (Vienna). 2021. PMID: 33247415 Review.
A Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism.
Niethammer M, Tang CC, Jamora RDG, Vo A, Nguyen N, Ma Y, Peng S, Waugh JL, Westenberger A, Eidelberg D. Niethammer M, et al. Ann Neurol. 2023 Oct;94(4):684-695. doi: 10.1002/ana.26732. Epub 2023 Jul 11. Ann Neurol. 2023. PMID: 37376770
OBJECTIVE: The purpose of this study was to characterize a metabolic brain network associated with X-linked dystonia-parkinsonism (XDP). METHODS: Thirty right-handed Filipino men with XDP (age = 44.4 8.5 years) and 30 XDP-causing mutation negative heal …
OBJECTIVE: The purpose of this study was to characterize a metabolic brain network associated with X-linked dystonia- …
X-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy.
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH. Evidente VGH, et al. Mov Disord. 2022 Jan;37(1):130-136. doi: 10.1002/mds.28801. Epub 2021 Sep 28. Mov Disord. 2022. PMID: 34582053
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can present with levodopa-responsive parkinsonism and abnormal dopamine transporter (DAT) imaging. ...
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipi …
Voice and swallowing dysfunction in X-linked dystonia parkinsonism.
Song PC, Le H, Acuna P, De Guzman JKP, Sharma N, Francouer TN, Dy ME, Go CL. Song PC, et al. Laryngoscope. 2020 Jan;130(1):171-177. doi: 10.1002/lary.27897. Epub 2019 Mar 19. Laryngoscope. 2020. PMID: 30889292
OBJECTIVES: To systematically characterize and describe voice and swallowing manifestations in patients with X-linked dystonia parkinsonism (XDP) and correlate with quality-of-life (QOL) measures. ...
OBJECTIVES: To systematically characterize and describe voice and swallowing manifestations in patients with X-linked dysto …
Prodromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype.
Steinhardt J, Hanssen H, Heldmann M, Sprenger A, Laabs BH, Domingo A, Reyes CJ, Prasuhn J, Brand M, Rosales R, Münte TF, Klein C, Westenberger A, Oropilla JQ, Diesta C, Brüggemann N. Steinhardt J, et al. Mov Disord. 2022 Jul;37(7):1474-1482. doi: 10.1002/mds.29033. Epub 2022 May 2. Mov Disord. 2022. PMID: 35491955
OBJECTIVES: The objective of this study was to determine whether motor or non-motor signs of the disease occur as indicators of a prodromal phase of X-linked dystonia-parkinsonism (XDP), a highly-penetrant monogenic movement disorder with striking basa …
OBJECTIVES: The objective of this study was to determine whether motor or non-motor signs of the disease occur as indicators of a prodromal …
Increased insula-putamen connectivity in X-linked dystonia-parkinsonism.
Blood AJ, Waugh JL, Münte TF, Heldmann M, Domingo A, Klein C, Breiter HC, Lee LV, Rosales RL, Brüggemann N. Blood AJ, et al. Neuroimage Clin. 2017 Oct 28;17:835-846. doi: 10.1016/j.nicl.2017.10.025. eCollection 2018. Neuroimage Clin. 2017. PMID: 29527488 Free PMC article.
Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. ...
Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may oc …
31 results