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

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

doi:10.1002/mds.20854

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

Cindy Zadikoff, Ekaterina Rogaeva, Ana Djarmati, Christine Sato, Shabnam Salehi-Rad, Peter St. George-Hyslop, Christine Klein, Anthony E. Lang^*

^*Corresponding author for this work

32 Citations (Scopus)

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.

Original language	English
Journal	Movement Disorders
Volume	21
Issue number	6
Pages (from-to)	875-879
Number of pages	5
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.20854
Publication status	Published - 01.06.2006

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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.",

author = "Cindy Zadikoff and Ekaterina Rogaeva and Ana Djarmati and Christine Sato and Shabnam Salehi-Rad and {St. George-Hyslop}, Peter and Christine Klein and Lang, {Anthony E.}",

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AU - Zadikoff, Cindy

AU - Rogaeva, Ekaterina

AU - Djarmati, Ana

AU - Sato, Christine

AU - Salehi-Rad, Shabnam

AU - St. George-Hyslop, Peter

AU - Klein, Christine

AU - Lang, Anthony E.

PY - 2006/6/1

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N2 - 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.

AB - 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.

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JO - Movement Disorders

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

Abstract

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