Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

Justus C. Dächsel; Owen A. Ross; Ignacio F. Mata; Jennifer Kachergus; Mathias Toft; Ashley Cannon; Matt Baker; Jennifer Adamson; Mike Hutton; Dennis W. Dickson; Matthew J. Farrer

doi:10.1007/s00401-006-0178-1

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

Justus C. Dächsel, Owen A. Ross, Ignacio F. Mata, Jennifer Kachergus, Mathias Toft, Ashley Cannon, Matt Baker, Jennifer Adamson, Mike Hutton, Dennis W. Dickson, Matthew J. Farrer

Neuroscience

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

42 Scopus citations

Abstract

Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.

Original language	English (US)
Pages (from-to)	601-606
Number of pages	6
Journal	Acta neuropathologica
Volume	113
Issue number	5
DOIs	https://doi.org/10.1007/s00401-006-0178-1
State	Published - May 2007

Keywords

Frontotemporal dementia
LRRK2
MAPT
Progranulin

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology
Cellular and Molecular Neuroscience

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10.1007/s00401-006-0178-1

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@article{d150a26755924144b2693539dacf7fa7,

title = "Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions",

abstract = "Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.",

keywords = "Frontotemporal dementia, LRRK2, MAPT, Progranulin",

author = "D{\"a}chsel, {Justus C.} and Ross, {Owen A.} and Mata, {Ignacio F.} and Jennifer Kachergus and Mathias Toft and Ashley Cannon and Matt Baker and Jennifer Adamson and Mike Hutton and Dickson, {Dennis W.} and Farrer, {Matthew J.}",

note = "Funding Information: Acknowledgments We are grateful to the following organizations for their support of this work: The Morris K. Udall Center for Excellence in Parkinson{\textquoteright}s disease research at Mayo Clinic (P50 NS40256), the Mayo Clinic Alzheimer Disease Research Center (P50 AG16574), P01 AG17216 and the brain banks of the State of Florida Alzheimer Disease Initiative and the Society for Progressive Supranuclear Palsy. OAR is a recipient of a Robert H. and Clarice Smith Fellowship. We thank Minnie Schreiber for technical assistance. We would also like to thank the donors and their families.",

year = "2007",

month = may,

doi = "10.1007/s00401-006-0178-1",

language = "English (US)",

volume = "113",

pages = "601--606",

journal = "Acta neuropathologica",

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T1 - Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

AU - Dächsel, Justus C.

AU - Ross, Owen A.

AU - Mata, Ignacio F.

AU - Kachergus, Jennifer

AU - Toft, Mathias

AU - Cannon, Ashley

AU - Baker, Matt

AU - Adamson, Jennifer

AU - Hutton, Mike

AU - Dickson, Dennis W.

AU - Farrer, Matthew J.

N1 - Funding Information: Acknowledgments We are grateful to the following organizations for their support of this work: The Morris K. Udall Center for Excellence in Parkinson’s disease research at Mayo Clinic (P50 NS40256), the Mayo Clinic Alzheimer Disease Research Center (P50 AG16574), P01 AG17216 and the brain banks of the State of Florida Alzheimer Disease Initiative and the Society for Progressive Supranuclear Palsy. OAR is a recipient of a Robert H. and Clarice Smith Fellowship. We thank Minnie Schreiber for technical assistance. We would also like to thank the donors and their families.

PY - 2007/5

Y1 - 2007/5

N2 - Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.

AB - Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.

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Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

Abstract

Keywords

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