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Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder
YL. Sosero, E. Yu, MA. Estiar, L. Krohn, K. Mufti, U. Rudakou, JA. Ruskey, F. Asayesh, SB. Laurent, D. Spiegelman, JF. Trempe, TG. Quinnell, N. Oscroft, I. Arnulf, JY. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, GL. Gigli, M. Valente,...
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
Department of Health - United Kingdom
PubMed
34690151
DOI
10.3233/jpd-212867
Knihovny.cz E-zdroje
- MeSH
- glukosylceramidasa genetika MeSH
- lidé MeSH
- Parkinsonova nemoc * komplikace MeSH
- porucha chování v REM spánku * diagnóza MeSH
- saposiny genetika MeSH
- synukleinopatie * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy. OBJECTIVE: To examine the role of PSAP mutations in iRBD. METHODS: We fully sequenced PSAP and performed Optimized Sequence Kernel Association Test in 1,113 iRBD patients and 2,324 controls. We identified loss-of-function (LoF) mutations, which are very rare in PSAP, in three iRBD patients and none in controls (uncorrected p = 0.018). RESULTS: Two variants were stop mutations, p.Gln260Ter and p.Glu166Ter, and one was an in-frame deletion, p.332_333del. All three mutations have a deleterious effect on saposin C, based on in silico analysis. In addition, the two carriers of p.Glu166Ter and p.332_333del mutations also carried a GBA variant, p.Arg349Ter and p.Glu326Lys, respectively. The co-occurrence of these extremely rare PSAP LoF mutations in two (0.2%) GBA variant carriers in the iRBD cohort, is unlikely to occur by chance (estimated co-occurrence in the general population based on gnomAD data is 0.00035%). Although none of the three iRBD patients with PSAP LoF mutations have phenoconverted to an overt synucleinopathy at their last follow-up, all manifested initial signs suggestive of motor dysfunction, two were diagnosed with mild cognitive impairment and all showed prodromal clinical markers other than RBD. Their probability of prodromal PD, according to the Movement Disorder Society research criteria, was 98% or more. CONCLUSION: These results suggest a possible role of PSAP variants in iRBD and potential genetic interaction with GBA, which requires additional studies.
Department of Human Genetics McGill University Montréal QC Canada
Department of Medicine University of Udine Udine Italy
Department of Neurological Sciences Università Vita Salute San Raffaele Milan Italy
Department of Neurology and Neurosurgery McGill University Montréal QC Canada
Department of Neurology Mayo Clinic Rochester MN USA
Department of Neurology Philipps University Marburg Germany
Department of Neurology Sleep Disorders Clinic Medical University of Innsbruck Innsbruck Austria
Department of Neurology St Dimpna Regional Hospital Geel Belgium
Department of Neurology University Hospital Antwerp Edegem Antwerp Belgium
Department of Neurology University Medical Centre Göttingen Göttingen Germany
Department of Neurosciences Clinical Neurology Unit University Hospital of Udine Udine Italy
Department of Neurosciences Université de Montréal Montréal QC Canada
Department of Psychiatry Université de Montréal Montréal QC Canada
Department of Psychology Université du Québec à Montréal Montréal QC Canada
Department of Sleep Medicine and Neuromuscular Disorders University of Münster Münster Germany
EuroMov University of Montpellier Montpellier France
IRCCS Institute of Neurological Sciences of Bologna Bologna Italy
Laboratory for Sleep Disorders St Dimpna Regional Hospital Geel Belgium
Montreal Neurological Institute McGill University Montréal QC Canada
Nuffield Department of Clinical Neurosciences University of Oxford Oxford United Kingdom
Paracelsus Elena Klinik Kassel Germany
Royal Papworth Hospital NHS Trust Cambridge UK
Sleep and Neurology Unit Beau Soleil Clinic Montpellier France
Sleep disorder Unit Carémeau Hospital University Hospital of Nîmes France
Citace poskytuje Crossref.org
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