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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Neurogenetik

32 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Movement Disorders
Jahrgang	21
Ausgabenummer	6
Seiten (von - bis)	875-879
Seitenumfang	5
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.20854
Publikationsstatus	Veröffentlicht - 01.06.2006

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10.1002/mds.20854

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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.",

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AU - Zadikoff, Cindy

AU - Rogaeva, Ekaterina

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AU - Sato, Christine

AU - Salehi-Rad, Shabnam

AU - St. George-Hyslop, Peter

AU - Klein, Christine

AU - Lang, Anthony E.

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

Abstract

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