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Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

✍ Scribed by Cindy Zadikoff; Ekaterina Rogaeva; Ana Djarmati; Christine Sato; Shabnam Salehi-Rad; Peter St. George-Hyslop; Christine Klein; Anthony E. Lang

Book ID
102501901
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
142 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. Β© 2006 Movement Disorder Society

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PINK1 mutations in a Brazilian cohort of
PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients
✍ Clecio Godeiro-Junior; Patricia M. de Carvalho-Aguiar; Andre C. FelΓ­cio; Orlando πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 218 KB πŸ‘ 1 views

## Abstract Data on the frequency of __PINK1__ mutations in Brazilian patients with early‐onset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the __PINK1__ gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD