Emerging parkinsonian phenotypes

Research output: Contribution to journalArticle

Abstract

There is no unique way to define Parkinson's disease (PD) clinically. "Classical parkinsonian features" can be found not only in sporadic idiopathic PD patients, but also in other parkinsonian disorders, such as genetic forms associated with mutations in PARK or in other genes. The present review will describe the parkinsonian phenotypes emerging from the new Mendelian genes which have been linked to PD (such as PARK9 and PARK14), the associated dystonia-parkinsonism disorders (such as the syndromes of neurodegeneration with brain iron accumulation) and the emerging data on heterozygous variants of genes which could influence the risk to develop PD and the PD phenotypes (like PD associated with glucosecerebrosidase mutations).

Original languageEnglish
Pages (from-to)834-840
Number of pages7
JournalRevue Neurologique
Volume166
Issue number10
DOIs
Publication statusPublished - Oct 2010

Fingerprint

Parkinson Disease
Phenotype
Parkinsonian Disorders
Genes
Dystonic Disorders
Mutation

Keywords

  • Dystonia
  • Parkinson disease
  • Parkinsonian syndromes
  • Phenotype

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Emerging parkinsonian phenotypes. / Elia, A. E.; Albanese, A.

In: Revue Neurologique, Vol. 166, No. 10, 10.2010, p. 834-840.

Research output: Contribution to journalArticle

@article{e01b8b1477b34cdc9b282d55070a35c2,
title = "Emerging parkinsonian phenotypes",
abstract = "There is no unique way to define Parkinson's disease (PD) clinically. {"}Classical parkinsonian features{"} can be found not only in sporadic idiopathic PD patients, but also in other parkinsonian disorders, such as genetic forms associated with mutations in PARK or in other genes. The present review will describe the parkinsonian phenotypes emerging from the new Mendelian genes which have been linked to PD (such as PARK9 and PARK14), the associated dystonia-parkinsonism disorders (such as the syndromes of neurodegeneration with brain iron accumulation) and the emerging data on heterozygous variants of genes which could influence the risk to develop PD and the PD phenotypes (like PD associated with glucosecerebrosidase mutations).",
keywords = "Dystonia, Parkinson disease, Parkinsonian syndromes, Phenotype",
author = "Elia, {A. E.} and A. Albanese",
year = "2010",
month = "10",
doi = "10.1016/j.neurol.2010.07.017",
language = "English",
volume = "166",
pages = "834--840",
journal = "Revue Neurologique",
issn = "0035-3787",
publisher = "Elsevier Masson",
number = "10",

}

TY - JOUR

T1 - Emerging parkinsonian phenotypes

AU - Elia, A. E.

AU - Albanese, A.

PY - 2010/10

Y1 - 2010/10

N2 - There is no unique way to define Parkinson's disease (PD) clinically. "Classical parkinsonian features" can be found not only in sporadic idiopathic PD patients, but also in other parkinsonian disorders, such as genetic forms associated with mutations in PARK or in other genes. The present review will describe the parkinsonian phenotypes emerging from the new Mendelian genes which have been linked to PD (such as PARK9 and PARK14), the associated dystonia-parkinsonism disorders (such as the syndromes of neurodegeneration with brain iron accumulation) and the emerging data on heterozygous variants of genes which could influence the risk to develop PD and the PD phenotypes (like PD associated with glucosecerebrosidase mutations).

AB - There is no unique way to define Parkinson's disease (PD) clinically. "Classical parkinsonian features" can be found not only in sporadic idiopathic PD patients, but also in other parkinsonian disorders, such as genetic forms associated with mutations in PARK or in other genes. The present review will describe the parkinsonian phenotypes emerging from the new Mendelian genes which have been linked to PD (such as PARK9 and PARK14), the associated dystonia-parkinsonism disorders (such as the syndromes of neurodegeneration with brain iron accumulation) and the emerging data on heterozygous variants of genes which could influence the risk to develop PD and the PD phenotypes (like PD associated with glucosecerebrosidase mutations).

KW - Dystonia

KW - Parkinson disease

KW - Parkinsonian syndromes

KW - Phenotype

UR - http://www.scopus.com/inward/record.url?scp=77957236191&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77957236191&partnerID=8YFLogxK

U2 - 10.1016/j.neurol.2010.07.017

DO - 10.1016/j.neurol.2010.07.017

M3 - Article

C2 - 20817231

AN - SCOPUS:77957236191

VL - 166

SP - 834

EP - 840

JO - Revue Neurologique

JF - Revue Neurologique

SN - 0035-3787

IS - 10

ER -