Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

The study of consanguineous families has provided novel insights into genetic causes of monogenic parkinsonism. Here, we present a family from the rural Khyber Pakhtunkhwa province, Pakistan, where three siblings were diagnosed with early-onset parkinsonism. Homozygosity mapping of two affected sibl...

Full description

Bibliographic Details
Main Authors: Steven R. Bentley, Suliman Khan, Marco Öchsner, Susitha Premarathne, Zain Aslam, Javed Y. Fowdar, Jamila Iqbal, Muhammad Naeem, Christopher A. Love, Stephen A. Wood, George D. Mellick, Alex M. Sykes
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Neurology
Subjects:
parkinson
genetic
CCN3
NOV
early-onset
extracellular matrix
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00331/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2020.00331/full

Similar Items