Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis

A. J. Whittle; O. A. Ross; A. Naini; P. Gordon; H. Mistumoto; J. C. Dächsel; J. T. Stone; Z. K. Wszolek; M. J. Farrer; S. Przedborski

doi:10.1007/s00702-006-0525-3

Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis

A. J. Whittle, O. A. Ross, A. Naini, P. Gordon, H. Mistumoto, J. C. Dächsel, J. T. Stone, Z. K. Wszolek, M. J. Farrer, S. Przedborski

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

7 Scopus citations

Abstract

Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype. However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening.

Original language	English (US)
Pages (from-to)	327-329
Number of pages	3
Journal	Journal of Neural Transmission
Volume	114
Issue number	3
DOIs	https://doi.org/10.1007/s00702-006-0525-3
State	Published - Mar 2007

Keywords

Amyotrophic lateral sclerosis
Lrrk2
Pathogenic substitutions

ASJC Scopus subject areas

Neurology
Clinical Neurology
Psychiatry and Mental health
Biological Psychiatry

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10.1007/s00702-006-0525-3

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title = "Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis",

abstract = "Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype. However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening.",

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doi = "10.1007/s00702-006-0525-3",

language = "English (US)",

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T1 - Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis

AU - Whittle, A. J.

AU - Ross, O. A.

AU - Naini, A.

AU - Gordon, P.

AU - Mistumoto, H.

AU - Dächsel, J. C.

AU - Stone, J. T.

AU - Wszolek, Z. K.

AU - Farrer, M. J.

AU - Przedborski, S.

PY - 2007/3

Y1 - 2007/3

N2 - Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype. However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening.

AB - Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype. However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening.

KW - Amyotrophic lateral sclerosis

KW - Lrrk2

KW - Pathogenic substitutions

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Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis

Abstract

Keywords

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