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Page 1
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP. Di Lazzaro G, et al. Mov Disord. 2021 Jul;36(7):1511-1525. doi: 10.1002/mds.28565. Epub 2021 May 7. Mov Disord. 2021. PMID: 33960519 Review.
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, namely X-linked dystonia-parkinsonism (XDP, Lubag disease), fragile X-associated tremor/ataxia syndrome (FXTAS), …
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, …
X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment.
Chin HL, Lin CY, Chou OH. Chin HL, et al. Acta Neurol Belg. 2023 Feb;123(1):45-55. doi: 10.1007/s13760-022-02144-3. Epub 2022 Nov 23. Acta Neurol Belg. 2023. PMID: 36418540 Review.
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affects Filipino descent, predominantly males. ...
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affec …
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 …
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 …
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 …
Rare causes of dystonia parkinsonism.
Schneider SA, Bhatia KP. Schneider SA, et al. Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Curr Neurol Neurosci Rep. 2010. PMID: 20694531 Review.
We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurod …
We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked …
A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism.
Alonto AHD, Jamora RDG. Alonto AHD, et al. Parkinsonism Relat Disord. 2024 Feb;119:105949. doi: 10.1016/j.parkreldis.2023.105949. Epub 2023 Nov 30. Parkinsonism Relat Disord. 2024. PMID: 38072720 Review.
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been studied well in recent years. ...
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been stu …
Basal Ganglia Atrophy as a Marker for Prodromal X-Linked Dystonia-Parkinsonism.
Hanssen H, Diesta CCE, Heldmann M, Dy J, Tantianpact J, Steinhardt J, Sauza R, Manalo HTS, Sprenger A, Reyes CJ, Tuazon R, Laabs BH, Domingo A, Rosales RL, Klein C, Münte TF, Westenberger A, Oropilla JQ, Brüggemann N. Hanssen H, et al. Ann Neurol. 2023 May;93(5):999-1011. doi: 10.1002/ana.26606. Epub 2023 Feb 17. Ann Neurol. 2023. PMID: 36646669 Clinical Trial.
Seventeen patients with X-linked dystonia-parkinsonism were recruited to replicate previous findings of basal ganglia pathology and iron accumulation. ...Longitudinal studies are needed to further elucidate the onset and progression rate of neurodegene …
Seventeen patients with X-linked dystonia-parkinsonism were recruited to replicate previous findings of basal ga …
The monogenic primary dystonias.
Müller U. Müller U. Brain. 2009 Aug;132(Pt 8):2005-25. doi: 10.1093/brain/awp172. Epub 2009 Jul 3. Brain. 2009. PMID: 19578124 Review.
While gross neuropathological changes are absent in most primary dystonias, including the paroxysmal forms, striking morphological alterations are found in some, such as in the X-linked dystonia-parkinsonism syndrome (DYT3). Neuropathological findings …
While gross neuropathological changes are absent in most primary dystonias, including the paroxysmal forms, striking morphological alteratio …
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. Westenberger A, et al. Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3. Ann Neurol. 2019. PMID: 30973967
OBJECTIVE: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. ...
OBJECTIVE: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single muta …
29 results