6533b826fe1ef96bd1283c12

RESEARCH PRODUCT

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

Marco D'amelioMaurizio MorelliMonica GagliardiGiuseppe NicolettiRadha ProcopioRadha ProcopioGrazia AnnesiAldo QuattroneGiuseppe BonapaceLaura Brighina

subject

Lewy Body DiseaseMale0301 basic medicineAgingPathologymedicine.medical_specialtyDementia with Lewy bodieDNA Mutational AnalysisDynactinProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineAtrophymedicineHumansIn patientGenetic TestingGenetic Association StudiesAgedDCTN1Dementia with Lewy bodiesbusiness.industryProgressive supranuclear palsyGeneral NeuroscienceParkinson DiseaseDynactin ComplexMiddle AgedMultiple System Atrophymedicine.diseaseDCTN1030104 developmental biologyItalyMutation testingDynactinAxoplasmic transportDCTN1; Dementia with Lewy bodies; Dynactin; Multiple system atrophy; Progressive supranuclear palsyFemaleSupranuclear Palsy ProgressiveNeurology (clinical)Geriatrics and GerontologybusinessNegative Results030217 neurology & neurosurgeryDevelopmental Biology

description

Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.

yearjournalcountryeditionlanguage
2020-01-01Neurobiology of Aging
https://doi.org/10.1016/j.neurobiolaging.2020.04.006