Mutations in DJ-1 are rare in familial Parkinson disease

Nathan Pankratz; Michael W. Pauciulo; Veronika E. Elsaesser; Diane K. Marek; Cheryl A. Halter; Joanne Wojcieszek; Alice Rudolph; Clifford W. Shults; Tatiana Foroud; William C. Nichols

doi:10.1016/j.neulet.2006.09.003

Mutations in DJ-1 are rare in familial Parkinson disease

Nathan Pankratz, Michael W. Pauciulo, Veronika E. Elsaesser, Diane K. Marek, Cheryl A. Halter, Joanne Wojcieszek, Alice Rudolph, Clifford W. Shults, Tatiana Foroud, William C. Nichols

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

43 Scopus citations

Abstract

Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.

Original language	English (US)
Pages (from-to)	209-213
Number of pages	5
Journal	Neuroscience Letters
Volume	408
Issue number	3
DOIs	https://doi.org/10.1016/j.neulet.2006.09.003
State	Published - Nov 20 2006

Bibliographical note

Funding Information:
This project was supported by R01 NS37167 and the National Cell Repository for Alzheimer's Disease (U24 AG021886). We thank Kathleen Miller and Michele Goodman for their assistance. We thank the subjects for their participation in this research study.

Keywords

DJ-1
MLPA
Multiplex ligation-dependent probe amplification
Parkinson disease

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10.1016/j.neulet.2006.09.003

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title = "Mutations in DJ-1 are rare in familial Parkinson disease",

abstract = "Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.",

keywords = "DJ-1, MLPA, Multiplex ligation-dependent probe amplification, Parkinson disease",

author = "Nathan Pankratz and Pauciulo, {Michael W.} and Elsaesser, {Veronika E.} and Marek, {Diane K.} and Halter, {Cheryl A.} and Joanne Wojcieszek and Alice Rudolph and Shults, {Clifford W.} and Tatiana Foroud and Nichols, {William C.}",

note = "Funding Information: This project was supported by R01 NS37167 and the National Cell Repository for Alzheimer's Disease (U24 AG021886). We thank Kathleen Miller and Michele Goodman for their assistance. We thank the subjects for their participation in this research study. ",

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doi = "10.1016/j.neulet.2006.09.003",

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AU - Pankratz, Nathan

AU - Pauciulo, Michael W.

AU - Elsaesser, Veronika E.

AU - Marek, Diane K.

AU - Halter, Cheryl A.

AU - Wojcieszek, Joanne

AU - Rudolph, Alice

AU - Shults, Clifford W.

AU - Foroud, Tatiana

AU - Nichols, William C.

N1 - Funding Information: This project was supported by R01 NS37167 and the National Cell Repository for Alzheimer's Disease (U24 AG021886). We thank Kathleen Miller and Michele Goodman for their assistance. We thank the subjects for their participation in this research study.

PY - 2006/11/20

Y1 - 2006/11/20

N2 - Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.

AB - Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.

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Mutations in DJ-1 are rare in familial Parkinson disease

Abstract

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