Search: onr:"swepub:oai:gup.ub.gu.se/319101" >
TWNK in Parkinson's...
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
-
Percetti, M. (author)
-
Franco, G. (author)
-
Monfrini, E. (author)
-
show more...
-
Caporali, L. (author)
-
Minardi, R. (author)
-
La Morgia, C. (author)
-
Valentino, M. L. (author)
-
Liguori, R. (author)
-
Palmieri, I. (author)
-
Ottaviani, D. (author)
-
Vizziello, M. (author)
-
Ronchi, D. (author)
-
Di Berardino, F. (author)
-
Cocco, A. (author)
-
- Macao, Bertil, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
-
- Falkenberg, Maria, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
-
Comi, G. P. (author)
-
Albanese, A. (author)
-
Giometto, B. (author)
-
Valente, E. M. (author)
-
Carelli, V. (author)
-
Di Fonzo, A. (author)
-
show less...
-
(creator_code:org_t)
- 2022-07-06
- 2022
- English.
-
In: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 37:9, s. 1938-1943
- Related links:
-
https://gup.ub.gu.se...
-
show more...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Background Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO). Methods Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed. Results Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism. Conclusions We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. (c) 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- TWNK
- twinkle
- Parkinson's disease
- parkinsonism
- mitochondrial DNA
- progressive external ophthalmoplegia
- onset spinocerebellar ataxia
- familial parkinsonism
- DNA deletions
- twinkle
- mutations
- polg
- Neurosciences & Neurology
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Percetti, M.
-
Franco, G.
-
Monfrini, E.
-
Caporali, L.
-
Minardi, R.
-
La Morgia, C.
-
show more...
-
Valentino, M. L.
-
Liguori, R.
-
Palmieri, I.
-
Ottaviani, D.
-
Vizziello, M.
-
Ronchi, D.
-
Di Berardino, F.
-
Cocco, A.
-
Macao, Bertil, 1 ...
-
Falkenberg, Mari ...
-
Comi, G. P.
-
Albanese, A.
-
Giometto, B.
-
Valente, E. M.
-
Carelli, V.
-
Di Fonzo, A.
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Neurosciences
- Articles in the publication
-
Movement Disorde ...
- By the university
-
University of Gothenburg