Τίτλος:
Genetic assessment of familial and early-onset Parkinson's disease in a
Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background and purpose Although the first mutation associated with
Parkinson’s disease (PD) was identified several years ago in the
alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a
more systematic study of this and other known PD mutations has not been
performed in the Greek population. Methods A genetic analysis in 111
familial or sporadic with early-onset (50years, EO) PD patients was
performed for the presence of the A53T SNCA mutation. In separate
subgroups of these patients, further mutations in the SNCA, LRRK2,
Parkin, PINK1 and DJ-1 genes were searched for. Additionally, a subgroup
of familial cases was analysed for mutations in the glucocerebrosidase
(GBA) gene. Results In total, five patients (4.5% of our whole
population) were identified with the A53T SNCA mutation, two with a
heterozygote dosage mutation and one with a heterozygote point mutation
in the Parkin gene, and seven patients (10.3% of our familial cohort)
with GBA gene mutations. Conclusions The A53T mutation in the SNCA gene,
although uncommon, does represent a cause of PD in the Greek population,
especially of familial EOPD with autosomal dominant inheritance. GBA
mutations in the familial cohort tested here were as common as in a
cohort of sporadic cases previously examined from the same centres. For
the remainder of the genes, genetic defects that could definitively
account for the disease were not identified. These results suggest that
further Mendelian traits that lead to PD in the Greek population remain
to be identified.
Συγγραφείς:
Bozi, M.
Papadimitriou, D.
Antonellou, R.
Moraitou, M. and
Maniati, M.
Vassilatis, D. K.
Papageorgiou, S. G.
Leonardos,
A.
Tagaris, G.
Malamis, G.
Theofilopoulos, D.
Kamakari,
S.
Stamboulis, E.
Hadjigeorgiou, G. M.
Athanassiadou, A. and
Michelakakis, H.
Papadimitriou, A.
Gasser, T.
Stefanis, L.
Περιοδικό:
European Journal of Paediatric Neurology
Λέξεις-κλειδιά:
early onset; familial; genetics; Greece; Parkinson’s disease
