Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile.
Mov Disord
; 34(7): 1069-1073, 2019 07.
Article
de En
| MEDLINE
| ID: mdl-31189032
ABSTRACT
BACKGROUND:
Patients with dementia with Lewy bodies reveal a variable pathology including alpha-synuclein, amyloid-beta, and Tau. Mutations in GBA1 are specifically associated with synucleinopathies. PD patients with GBA1 mutations show reduced CSF levels of total alpha-synuclein.OBJECTIVE:
Whether GBA1 mutations are associated with a CSF alpha-synuclein profile in dementia with Lewy bodies.METHODS:
Screening of the GBA1 gene and single-nucleotide polymorphisms in SNCA rs356220, APOE rs429358, and MAPT rs1052587 as well as CSF levels of total alpha-synuclein, amyloid-beta1-42 , total-Tau, phospho-Tau, and neurofilament light chain were assessed in 100 dementia with Lewy bodies and 39 controls cross-sectionally.RESULTS:
Severity of GBA1 mutations was associated with a younger age at onset and higher prevalence of rapid eye movement sleep behavior disorder. CSF levels of total alpha-synuclein were lowest in DLBGBA_pathogenic compared to DLBGBA_mild and DLBGBA_wildtype .CONCLUSION:
Similar to PD, pathogenic GBA1 mutations seem to be associated with CSF alpha-synuclein profiles in dementia with Lewy bodies. That might be useful for patient stratification for specific alpha-synuclein-lowering compounds. © 2019 International Parkinson and Movement Disorder Society.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladie à corps de Lewy
/
Alpha-Synucléine
/
Glucosylceramidase
/
Mutation
Type d'étude:
Diagnostic_studies
/
Risk_factors_studies
Limites:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
Mov Disord
Sujet du journal:
NEUROLOGIA
Année:
2019
Type de document:
Article
Pays d'affiliation:
Allemagne