Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)327-329
Number of pages3
JournalJournal of Neural Transmission
Volume114
Issue number3
DOIs
StatePublished - Mar 2007

Fingerprint

Amyotrophic Lateral Sclerosis
Parkinsonian Disorders
Genetic Testing
Neurodegenerative Diseases
Dementia
Phosphotransferases
Phenotype
Mutation

Keywords

  • Amyotrophic lateral sclerosis
  • Lrrk2
  • Pathogenic substitutions

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Whittle, A. J., Ross, O. A., Naini, A., Gordon, P., Mistumoto, H., Dächsel, J. C., ... Przedborski, S. (2007). Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis. Journal of Neural Transmission, 114(3), 327-329. https://doi.org/10.1007/s00702-006-0525-3

Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis. / Whittle, A. J.; Ross, Owen A; Naini, A.; Gordon, P.; Mistumoto, H.; Dächsel, J. C.; Stone, J. T.; Wszolek, Zbigniew K; Farrer, M. J.; Przedborski, S.

In: Journal of Neural Transmission, Vol. 114, No. 3, 03.2007, p. 327-329.

Research output: Contribution to journalArticle

Whittle, AJ, Ross, OA, Naini, A, Gordon, P, Mistumoto, H, Dächsel, JC, Stone, JT, Wszolek, ZK, Farrer, MJ & Przedborski, S 2007, 'Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis', Journal of Neural Transmission, vol. 114, no. 3, pp. 327-329. https://doi.org/10.1007/s00702-006-0525-3
Whittle, A. J. ; Ross, Owen A ; Naini, A. ; Gordon, P. ; Mistumoto, H. ; Dächsel, J. C. ; Stone, J. T. ; Wszolek, Zbigniew K ; Farrer, M. J. ; Przedborski, S. / Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis. In: Journal of Neural Transmission. 2007 ; Vol. 114, No. 3. pp. 327-329.
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