What genetics tells us about the causes and mechanisms of Parkinson's disease

O Corti, S Lesage, A Brice - Physiological reviews, 2011 - journals.physiology.org
Parkinson's disease (PD) is a common motor disorder of mysterious etiology. It is due to the
progressive degeneration of the dopaminergic neurons of the substantia nigra and is …

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

K Nuytemans, J Theuns, M Cruts… - Human …, 2010 - Wiley Online Library
To date, molecular genetic analyses have identified over 500 distinct DNA variants in five
disease genes associated with familial Parkinson disease; α‐synuclein (SNCA), parkin …

LRRK2 in Parkinson's disease: protein domains and functional insights

IF Mata, WJ Wedemeyer, MJ Farrer, JP Taylor… - Trends in …, 2006 - cell.com
Parkinson's disease (PD) is the most common motor neurodegenerative disease. Mutations
in the gene encoding leucine-rich repeat kinase 2 (LRRK2) have been linked recently with …

Exploring the relationship between essential tremor and Parkinson's disease

J Shahed, J Jankovic - Parkinsonism & related disorders, 2007 - Elsevier
Although essential tremor (ET) and Parkinson's disease (PD) are considered distinct
disorders, there is overlap in some clinical features. In some PD patients, a long-standing …

Pathogenic mutations in Parkinson disease

EK Tan, LM Skipper - Human mutation, 2007 - Wiley Online Library
Parkinson disease (PD; Parkinson's) is the second most common neurodegenerative
disease, characterized by the progressive loss of dopamine neurons and the accumulation …

Genetics of essential tremor

H Deng, W Le, J Jankovic - Brain, 2007 - academic.oup.com
Essential tremor (ET), the cause of which remains poorly understood, is one of the most
common neurological disorders. While environmental agents have been proposed to play a …

Дрожательные гиперкинезы

СН Иллариошкин, ИА Иванова-Смоленская - 2011 - elibrary.ru
В первом отечественном руководстве, посвященном чрезвычайно актуальной и
наиболее распространенной форме двигательных расстройств—тремору …

Revisiting the relationship between essential tremor and Parkinson's disease

R Fekete, J Jankovic - Movement Disorders, 2011 - Wiley Online Library
Background: The relationship between essential tremor and Parkinson's disease has been a
subject of reviews and debates for long time, but there is now growing evidence that the two …

Parkinson's disease is predominantly a genetic disease

SY Lim, C Klein - Journal of Parkinson's Disease, 2024 - content.iospress.com
The discovery of a pathogenic variant in the alpha-synuclein (SNCA) gene in the Contursi
kindred in 1997 indisputably confirmed a genetic cause in a subset of Parkinson's disease …

The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence

EK Tan, Y Zhao, L Skipper, MG Tan, A Di Fonzo, L Sun… - Human genetics, 2007 - Springer
Evidence of LRRK2 haplotypes associated with Parkinson's disease (PD) risk was recently
found in the Chinese population from Singapore, and a common LRRK2 missense variant …