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Genotype–Phenotype ...
Genotype–Phenotype Relations for the Atypical Parkinsonism Genes : MDSGene Systematic Review
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- Wittke, Christina (författare)
- British Columbia Children's Hospital
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- Petkovic, Sonja (författare)
- British Columbia Children's Hospital
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- Dobricic, Valerija (författare)
- British Columbia Children's Hospital
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- Schaake, Susen (författare)
- British Columbia Children's Hospital
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- Arzberger, Thomas (författare)
- University Hospital Munich,Ludwig-Maximilian University of Munich
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- Compta, Yaroslau (författare)
- University of Barcelona
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- Englund, Elisabet (författare)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Ferguson, Leslie W. (författare)
- Royal University Hospital, Saskatoon
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- Gelpi, Ellen (författare)
- Medical University of Vienna,University of Barcelona
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- Roeber, Sigrun (författare)
- Ludwig-Maximilian University of Munich
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- Giese, Armin (författare)
- Ludwig-Maximilian University of Munich
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- Grossman, Murray (författare)
- University of Pennsylvania
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- Irwin, David J. (författare)
- University of Pennsylvania
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- Meissner, Wassilios G. (författare)
- Groupe Hospitalier Pellegrin,University of Bordeaux
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- Nilsson, Christer (författare)
- Lund University,Lunds universitet,Translationell Neurologi,Forskargrupper vid Lunds universitet,Klinisk minnesforskning,Translational Neurology (TNY),Lund University Research Groups,Clinical Memory Research
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- Pantelyat, Alexander (författare)
- Johns Hopkins University
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- Rajput, Alex (författare)
- Royal University Hospital, Saskatoon
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- van Swieten, John C. (författare)
- Erasmus University Medical Center
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- Troakes, Claire (författare)
- King's College London
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- Respondek, Gesine (författare)
- German Center for Neurodegenerative Diseases (DZNE), Bonn,Technical University of Munich
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- Weissbach, Anne (författare)
- British Columbia Children's Hospital
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- Madoev, Harutyun (författare)
- British Columbia Children's Hospital
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- Trinh, Joanne (författare)
- British Columbia Children's Hospital
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- Vollstedt, Eva Juliane (författare)
- British Columbia Children's Hospital
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- Kuhnke, Neele (författare)
- British Columbia Children's Hospital
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- Lohmann, Katja (författare)
- British Columbia Children's Hospital
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- Dulovic Mahlow, Marija (författare)
- British Columbia Children's Hospital
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- Marras, Connie (författare)
- University of Toronto
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- König, Inke R. (författare)
- British Columbia Children's Hospital
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- Stamelou, Maria (författare)
- European University Cyprus,Philipp University of Marburg,Hygeia Hospital
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- Bonifati, Vincenzo (författare)
- Erasmus University Medical Center
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- Lill, Christina M. (författare)
- British Columbia Children's Hospital
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- Kasten, Meike (författare)
- British Columbia Children's Hospital
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- Huppertz, Hans Jürgen (författare)
- Swiss Epilepsy Centre
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- Höglinger, Günter (författare)
- Hannover Medical School,German Center for Neurodegenerative Diseases (DZNE), Bonn
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- Klein, Christine (författare)
- British Columbia Children's Hospital
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(creator_code:org_t)
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- 2021-03-19
- 2021
- Engelska 12 s.
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Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 36:7, s. 1499-1510
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated (“bagged”) decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95%CI, 86.3%–86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10−12) and levodopa response less favorable than in patients with monogenic typical presentations (49% vs 93%). In addition, we compared monogenic to nonmonogenic atypical parkinsonism using data from 362 patients with progressive supranuclear gaze palsy, corticobasal degeneration, multiple system atrophy, or frontotemporal lobar degeneration. Although these conditions share many clinical features with the monogenic atypical forms, they can typically be distinguished based on their later median age at onset (64 years; IQR, 57–70 years). In conclusion, age at onset, presence of specific signs, and degree of levodopa response inform differential diagnostic considerations and genetic testing indications in atypical forms of parkinsonism.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- atypical parkinsonism
- genetics
- MDSGene
- Parkinson's disease
- red flags
- systematic review
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Wittke, Christin ...
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Petkovic, Sonja
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Dobricic, Valeri ...
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Schaake, Susen
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Arzberger, Thoma ...
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Compta, Yaroslau
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visa fler...
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Englund, Elisabe ...
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Ferguson, Leslie ...
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Gelpi, Ellen
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Roeber, Sigrun
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Giese, Armin
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Grossman, Murray
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Irwin, David J.
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Meissner, Wassil ...
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Nilsson, Christe ...
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Pantelyat, Alexa ...
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Rajput, Alex
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van Swieten, Joh ...
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Troakes, Claire
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Respondek, Gesin ...
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Weissbach, Anne
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Madoev, Harutyun
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Trinh, Joanne
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Vollstedt, Eva J ...
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Kuhnke, Neele
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Lohmann, Katja
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Dulovic Mahlow, ...
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Marras, Connie
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König, Inke R.
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Stamelou, Maria
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Bonifati, Vincen ...
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Lill, Christina ...
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Kasten, Meike
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Huppertz, Hans J ...
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Höglinger, Günte ...
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Klein, Christine
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
- Artiklar i publikationen
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Movement Disorde ...
- Av lärosätet
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Lunds universitet