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Clinical heterogeneity of LRRK2 p.I2012T mutation.

Abstract：

INTRODUCTION:Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of Parkinson's disease (PD). However, only few cases carrying LRRK2 mutations have been reported in Taiwanese PD patients. METHODS:We used targeted next generation sequencing (NGS), covering 24 candidate genes involved in neurodegenerative disorders, to analyze 40 probands with familial PD, and 10 patients with mixed neurodegenerative disorders. Sanger sequencing of the identified mutation in the first set of the study was performed in additional 270 PD patients, including 139 familial PD and 131 early-onset PD (onset age less than 50 years old), and 300 age/gender matched control subjects. RESULTS:We found a missense variant, p.I2012T, in the LRRK2 gene in one sporadic patient having early-onset frontotemporal dementia with parkinsonism and dystonia. Sanger sequencing this substitution in additional 270 PD patients in the second set of the study revealed two additional variant carriers: one having autosomal-dominant familial PD, and one with sporadic PD. The p.I2012T substitution was absent in 300 normal control subjects. Analyzing family members of the proband with p.I2012T revealed co-segregation of the variant and parkinsonism. Clinical presentations, levodopa responses, and Tc99mTRODAT-SPECT imaging findings of this index family were similar to idiopathic PD. CONCLUSIONS:Our results revealed clinical heterogeneity of the LRRK2 p.I2012T substitution, and demonstrated the use of targeted NGS for genetic diagnosis in multiplex families with PD or mixed neurodegenerative disorders.

journal_name

Parkinsonism Relat Disord

journal_title

Parkinsonism & related disorders

authors

Fan TS,Wu RM,Chen PL,Chen TF,Li HY,Lin YH,Chen CY,Chen ML,Tai CH,Lin HI,Lin CH

doi

10.1016/j.parkreldis.2016.09.008

subject

Has Abstract

pub_date

2016-12-01 00:00:00

pages

36-43

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(16)30333-9

journal_volume

33

pub_type

杂志文章

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