Autosomal dominant Parkinson's disease

Christina Sundal, Shinsuke Fujioka, Ryan J. Uitti, Zbigniew K Wszolek

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1. Among these genes, LRRK2 is the most prevalent. Additionally, susceptibility variants located on some of these genes are widely recognized as risk factors for PD in certain ethnic populations. Alpha synuclein Lewy body (LB) pathology, the hallmark of sporadic PD, is predominantly seen in carriers of SNCA and LRRK2. Recently two new autosomal dominant PD genes have been discovered, eukaryotic translation initiation factor 4-gamma (EIF4G1) and vacuolar protein sorting 35 (VPS35). EIF4G1 is associated with LB pathology; however, only limited data currently exists on pathology of the VPS35. Thus, it remains to be seen if LB pathology can be identified on autopsy examination of carriers of VPS35 gene. The mechanism behind the cause of PD has yet to be elucidated; however, genetic studies on autosomal dominant PD have provided novel insights into the potential etiology of PD. Thus, paving the way for future targeted therapies aimed at disease prevention and cure.

Original languageEnglish (US)
JournalParkinsonism and Related Disorders
Volume18
Issue numberSUPPL. 1
StatePublished - Jan 2012

Fingerprint

Parkinson Disease
Lewy Bodies
Protein Transport
Pathology
Genes
Eukaryotic Initiation Factor-4G
Recessive Genes
Dominant Genes
alpha-Synuclein
Genetic Research
Autopsy
Carrier Proteins
Parkinson Disease, Familial, Type 1
Population
Therapeutics

Keywords

  • Autosomal dominant genes
  • EIF4g
  • Genetics of parkinsonism
  • LRRK2
  • Parkinson's disease
  • SNCA
  • VPS35

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Sundal, C., Fujioka, S., Uitti, R. J., & Wszolek, Z. K. (2012). Autosomal dominant Parkinson's disease. Parkinsonism and Related Disorders, 18(SUPPL. 1).

Autosomal dominant Parkinson's disease. / Sundal, Christina; Fujioka, Shinsuke; Uitti, Ryan J.; Wszolek, Zbigniew K.

In: Parkinsonism and Related Disorders, Vol. 18, No. SUPPL. 1, 01.2012.

Research output: Contribution to journalArticle

Sundal, C, Fujioka, S, Uitti, RJ & Wszolek, ZK 2012, 'Autosomal dominant Parkinson's disease', Parkinsonism and Related Disorders, vol. 18, no. SUPPL. 1.
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK. Autosomal dominant Parkinson's disease. Parkinsonism and Related Disorders. 2012 Jan;18(SUPPL. 1).
Sundal, Christina ; Fujioka, Shinsuke ; Uitti, Ryan J. ; Wszolek, Zbigniew K. / Autosomal dominant Parkinson's disease. In: Parkinsonism and Related Disorders. 2012 ; Vol. 18, No. SUPPL. 1.
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