The SNCA/alpha-synuclein p.A53T mutation segregating in the Contursi kindred was the first mutation ever described in inherited Parkinson’s disease.Through the direct examination of 10 subjects from a branch of the Contursi kindred and the collection of data on 11 other members affected by history, we could highlight the relevant intrafamilial phenotypic variability in carriers of the SNCA p.A53T mutation.
The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation / Ricciardi, Lucia; Petrucci, Simona; Di Giuda, Daniela; Serra, Laura; Spanò, Barbara; Sensi, Mariachiara; Ginevrino, Monia; Cocciolillo, Fabrizio; Bozzali, Marco; Valente, Enza Maria; Fasano, Alfonso. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - ELETTRONICO. - 31:2(2016), pp. 257-258. [10.1002/mds.26549]
The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation
PETRUCCI, SIMONA;
2016
Abstract
The SNCA/alpha-synuclein p.A53T mutation segregating in the Contursi kindred was the first mutation ever described in inherited Parkinson’s disease.Through the direct examination of 10 subjects from a branch of the Contursi kindred and the collection of data on 11 other members affected by history, we could highlight the relevant intrafamilial phenotypic variability in carriers of the SNCA p.A53T mutation.| File | Dimensione | Formato | |
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