Patrick Acuna
Overview
Explore the profile of Patrick Acuna including associated specialties, affiliations and a list of published articles.
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12
Citations
285
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Recent Articles
1.
Kao T, Gochyyev P, Sharma N, de Guzman J, Supnet Wells M, Acuna P, et al.
Clin Park Relat Disord
. 2024 Dec;
11:100282.
PMID: 39634363
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines. Difficulty swallowing has been linked to malnutrition in...
2.
Parisi F, Corniani G, Bonato P, Balkwill D, Acuna P, Go C, et al.
Sci Rep
. 2024 Jun;
14(1):13229.
PMID: 38853162
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable sensor-based...
3.
Kao T, Rowe H, Green J, Stipancic K, Sharma N, de Guzman J, et al.
Parkinsonism Relat Disord
. 2024 Jan;
120:105991.
PMID: 38184995
Introduction: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. The literature suggests that there are differences in the speech of individuals with XDP and...
4.
Acuna P, Supnet-Wells M, Spencer N, de Guzman J, Russo M, Hunt A, et al.
Brain Commun
. 2023 Jun;
5(3):fcad106.
PMID: 37265597
X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an...
5.
Laabs B, Klein C, Pozojevic J, Domingo A, Bruggemann N, Grutz K, et al.
Nat Commun
. 2021 May;
12(1):3216.
PMID: 34050153
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association...
6.
Supnet M, Acuna P, Carr S, de Guzman J, Qahtani X, Multhaupt-Buell T, et al.
Front Neurol
. 2020 Dec;
11:591418.
PMID: 33329340
Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays...
7.
Al Ali J, Vaine C, Shah S, Campion L, Hakoum A, Supnet M, et al.
Mov Disord
. 2020 Sep;
36(1):206-215.
PMID: 32975318
Background: X-linked dystonia-parkinsonism is a rare neurological disease endemic to the Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress to parkinsonism with degenerative...
8.
Stephen C, Go C, Acuna P, Sharma N
Mov Disord Clin Pract
. 2020 May;
7(4):448-452.
PMID: 32373662
Background: X-linked dystonia parkinsonism (XDP) is a rare disorder characterized by adult-onset, progressive dystonia that, over time, is combined with or replaced by features of parkinsonism. Gait impairment is common....
9.
Song P, Le H, Acuna P, De Guzman J, Sharma N, Francouer T, et al.
Laryngoscope
. 2019 Mar;
130(1):171-177.
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. Methods: Thirty-four patients with XDP with communication...
10.
Aneichyk T, Hendriks W, Yadav R, Shin D, Gao D, Vaine C, et al.
Cell
. 2018 Feb;
172(5):897-909.e21.
PMID: 29474918
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype. We integrated multiple genome and transcriptome assembly technologies to...