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DCTN1-related Parkinson-plus disorder (Perry syndrome).
Richardson D, McEntagart MM, Isaacs JD. Richardson D, et al. Pract Neurol. 2020 Aug;20(4):317-319. doi: 10.1136/practneurol-2020-002505. Epub 2020 May 20. Pract Neurol. 2020. PMID: 32434902
Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. ...
Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder charac …
Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.
Malaquias MJ, Igreja L, Nogueira C, Pereira C, Vilarinho L, Quelhas D, Freixo JP, Oliveira J, Magalhães M. Malaquias MJ, et al. Parkinsonism Relat Disord. 2023 Jun;111:105408. doi: 10.1016/j.parkreldis.2023.105408. Epub 2023 Apr 20. Parkinsonism Relat Disord. 2023. PMID: 37105015
A final aetiological diagnosis was established for 11 patients, four from the complex parkinsonism (L-2-hidroxiglutaric aciduria and DiGeorge syndrome) and seven from the "atypical" APS (Perry syndrome, postencephalitic PSP, vascular PSP, and MTP-AT6 mitochondrial d …
A final aetiological diagnosis was established for 11 patients, four from the complex parkinsonism (L-2-hidroxiglutaric aciduria and DiGeorg …
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Vilariño-Güell C, et al. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
OBJECTIVE: Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. ...
OBJECTIVE: Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive patho …