Clinical approach to Parkinson's disease: features, diagnosis, and principles of management

J Massano, KP Bhatia - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The
condition causes a heavy burden both on those affected, as well as their families. Accurate …

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 …

Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons

MS Goldberg, SM Fleming, JJ Palacino… - Journal of Biological …, 2003 - ASBMB
Loss-of-function mutations in parkin are the major cause of early-onset familial Parkinson's
disease. To investigate the pathogenic mechanism by which loss of parkin function causes …

The genetics of Parkinson disease

LM Bekris, IF Mata, CP Zabetian - Journal of geriatric …, 2010 - journals.sagepub.com
Parkinson disease (PD) is the second most common neurodegenerative disorder. In most
instances, PD is thought to result from a complex interaction between multiple genetic and …

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

EM Valente, AR Bentivoglio, PH Dixon… - The American Journal of …, 2001 - cell.com
The cause of Parkinson disease (PD) is still unknown, but genetic factors have recently been
implicated in the etiology of the disease. So far, four loci responsible for autosomal dominant …

The biochemistry of Parkinson's disease

MR Cookson - Annu. Rev. Biochem., 2005 - annualreviews.org
▪ Abstract Several genes have been identified for monogenic disorders that variably
resemble Parkinson's disease. Dominant mutations in the gene encoding α-synuclein …

Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism

A Schrag, JM Schott - The Lancet Neurology, 2006 - thelancet.com
In this review we discuss the epidemiological, clinical, and genetic characteristics of early-
onset parkinsonism, defined as parkinsonism starting before age 40 (sometimes 50) years …

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

JM Itier, P Ibanez, MA Mena, N Abbas… - Human molecular …, 2003 - academic.oup.com
Mutations of the parkin gene are the most frequent cause of early onset autosomal recessive
parkinsonism (EO-AR). Here we show that inactivation of the parkin gene in mice results in …

The role of monogenic genes in idiopathic Parkinson's disease

X Reed, S Bandrés-Ciga, C Blauwendraat… - Neurobiology of …, 2019 - Elsevier
In the past two decades, mutations in multiple genes have been linked to autosomal
dominant or recessive forms of monogenic Parkinson's disease (PD). Collectively, these …

Lewy bodies and parkinsonism in families with parkin mutations

M Farrer, P Chan, R Chen, L Tan… - Annals of Neurology …, 2001 - Wiley Online Library
Previous work has established that compound mutations and homozygous loss of function of
the parkin gene cause early‐onset, autosomal recessive parkinsonism. Classically, this …