Ellen B. Penney

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

Charles Jourdan F Reyes, Aloysius Domingo, Ellen B. Penney, Ean P. Norenberg et autres

SUMMARY Tauopathies encompass diverse neurodegenerative diseases unified by aberrant patterns of tau deposition in brain. Although most appear sporadic, some are linked to genetic etiologies that offer unique mechanistic insights. Here we report that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated …

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Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Adelie Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han et autres

OBJECTIVE: Initially described in 1976, X-linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature …

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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis et autres

X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1. One element of the SVA is a tandem polymorphic CCCTCT repeat tract whose length inversely correlates with the age of disease …

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Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

Rachita Yadav, Christine A. Vaine, Aloysius Domingo, Sheldon C. Reed et autres

X-linked Dystonia-Parkinsonism (XDP) is a lethal adult-onset neurodegenerative disorder that exhibits features of dystonia and parkinsonism and is exclusively associated with a causal founder haplotype that is indigenous to the Philippines and affects Filipino males. Using patient-specific fibroblasts, neural stem cells (NSC), …

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Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

Priya S. Prakash, Kerry C. Limberg, Weimin Zhang, Yu Zhao et autres

X-linked Dystonia-Parkinsonism (XDP) is a progressive, adult-onset neurodegenerative movement disorder that predominantly affects males of Filipino descent 1-3 . The disease is caused by the insertion of a SINE-VNTR-Alu subfamily F (SVA_F) retrotransposon within an intron of the TATA-box binding protein-associated factor …

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A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration

Laura D’Ignazio, Alan P. R. Lorenzetti, Ellen B. Penney, Taylor A. Evans et autres

A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration

Laura D’Ignazio, Alan P. R. Lorenzetti, Ellen B. Penney, Taylor A. Evans et autres

Retrotransposon activation is emerging as a significant factor in neurodegenerative disease pathogenesis. SINE-VNTR-Alu (SVAs) are hominid-specific retrotransposons that create genetic variation through insertion polymorphisms and variable short tandem repeat (STR) lengths. We investigate how the SVA (CCCTCT) n STR contributes to the …

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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis et autres

Abstract X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1 gene. One element of the SVA is a tandem polymorphic CCCTCT repeat tract whose length inversely correlates with the age …

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Social determinants of health and health-related quality of life in individuals with isolated dystonia

Caroline A. Nelson, Christopher D. Stephen, Ellen B. Penney, Hang Lee et autres

Background and objectives: Dystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population. People with generalized dystonia report worse HRQoL scores …

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Therapeutic Targeting of Alternative Splicing Caused by a Lethal Noncoding Structural Variant in X-Linked Dystonia Parkinsonism

Rachita Yadav, Christine A. Vaine, Aloysius Domingo, Shivangi Shah et autres

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Targeting Myeloperoxidase to Reduce Neuroinflammation in X‐Linked Dystonia Parkinsonism

Tiziana Petrozziello, Negin Jalali Motlagh, Ranee Zara B. Monsanto, Dan Lei et autres

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. Recently, we demonstrated an increase in myeloperoxidase (MPO) levels in XDP …

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G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism

Giulia Nicoletto, Marianna Terreri, Ilaria Maurizio, Emanuela Ruggiero et autres

G-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dystonia parkinsonism (XDP) is an inherited neurodegenerative disease in which a SINE-VNTR-Alu (SVA) retrotransposon, characterised by amplification of a G-rich repeat, is inserted into the coding sequence …

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