Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.

Abstract:

:In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10. Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Rubino E,Brusa L,Zhang M,Boschi S,Govone F,Vacca A,Gai A,Pinessi L,Lopiano L,Rogaeva E,Rainero I

doi

10.1016/j.neurobiolaging.2016.12.027

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

193.e7-193.e8

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(16)30340-2

journal_volume

53

pub_type

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