Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

BH Laabs, C Klein, J Pozojevic, A Domingo… - Nature …, 2021 - nature.com
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

J Trinh, T Lüth, S Schaake, BH Laabs, K Schlüter, J Laβ… - Brain, 2023 - academic.oup.com
While many genetic causes of movement disorders have been identified, modifiers of
disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a …

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

A Domingo, LV Lee, N Brüggemann… - JAMA …, 2014 - jamanetwork.com
Importance Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease)
has also been described in women presenting with a late-onset isolated parkinsonian …

Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms

C Blauwendraat, K Heilbron, CL Vallerga… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease

EM Hill-Burns, OA Ross, WT Wissemann… - Human molecular …, 2016 - academic.oup.com
Parkinson's disease (PD) is the most common cause of neurodegenerative movement
disorder and the second most common cause of dementia. Genes are thought to have a …

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

A Domingo, A Westenberger, LV Lee… - European Journal of …, 2015 - nature.com
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly
prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic …

Inefficient DNA repair is an aging-related modifier of Parkinson's disease

S Sepe, C Milanese, S Gabriels, KWJ Derks… - Cell reports, 2016 - cell.com
The underlying relation between Parkinson's disease (PD) etiopathology and its major risk
factor, aging, is largely unknown. In light of the causative link between genome stability and …

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

A Westenberger, CJ Reyes, G Saranza… - Annals of …, 2019 - Wiley Online Library
Objective X‐linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder
caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon insertion in TAF1 …

Whole-exome sequencing in familial Parkinson disease

JL Farlow, LA Robak, K Hetrick, K Bowling… - JAMA …, 2016 - jamanetwork.com
Importance Parkinson disease (PD) is a progressive neurodegenerative disease for which
susceptibility is linked to genetic and environmental risk factors. Objective To identify genetic …

Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk

BI Bustos, K Billingsley, C Blauwendraat, JR Gibbs… - Brain, 2023 - academic.oup.com
Parkinson's disease is a complex neurodegenerative disorder with a strong genetic
component, for which most known disease-associated variants are single nucleotide …