THE NOVEL p.A30G SNCA MUTATION IN GREEK PATIENTS WITH PARKINSON’S DISEASE

Postgraduate Thesis uoadl:3217240 71 Read counter

Unit:
Κατεύθυνση Νευροεπιστήμες
Library of the School of Science
Deposit date:
2022-05-09
Year:
2022
Author:
Alefanti Ioanna
Supervisors info:
Γεώργιος Κούτσης, Επίκουρος Καθηγητής Νευρολογίας- Νευρογενετικής
Συν-υπεύθυνος Μονάδας Νευρογενετικής
Α' Νευρολογική Κλινική, Αιγινήτειο Νοσοκομείο
Ιατρική Σχολή, ΕΚΠΑ "
Original Title:
THE NOVEL p.A30G SNCA MUTATION IN GREEK PATIENTS WITH PARKINSON’S DISEASE
Languages:
English
Translated title:
THE NOVEL p.A30G SNCA MUTATION IN GREEK PATIENTS WITH PARKINSON’S DISEASE
Summary:
The SNCA gene is the first gene with mutations reported to cause heritable forms of
Parkinson’s disease (PD). In the Greek population, p.A53T is the only SNCA mutation
that has been identified to cause autosomal dominant PD. According to a recent
study, a novel heterozygous p.A30G mutation identified in the SNCA gene was found
to segregate with the disease in three unrelated Greek families. In the present study,
a Greek cohort of 299 PD index cases was screened for p.A30G. Restriction fragment
length polymorphism (RFLPs) was used for the genotyping and the positive findings
were confirmed by Sanger sequencing. In total, 2 patients were revealed to be
positive for p.A30G. Here, the clinical and genetic findings of two Greek p.A30G
families are described. These findings indicate that the p.A30G SNCA mutation
represents an important, albeit rare, cause of autosomal dominant PD in the Greek
population and should be included in routine genetic testing.
Main subject category:
Science
Other subject categories:
Health Sciences
Keywords:
Parkinson’s disease, SNCA, alpha-synuclein, p.A30G, Greek population
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
63
Number of pages:
25
File:
File access is restricted until 2024-05-17.

The novel p.A30G SNCA mutation in Greek patients with Parkinson’s disease .pdf
1 MB
File access is restricted until 2024-05-17.