LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

Connie Marras; Christine Klein; Anthony E. Lang; Yosuke Wakutani; Danielle Moreno; Christine Sato; Edwin Yip; Renato P. Munhoz; Katja Lohmann; Ana Djarmati; Andrew Bi; Ekaterina Rogaeva

doi:10.1016/j.neurobiolaging.2008.05.030

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

Connie Marras^*, Christine Klein, Anthony E. Lang, Yosuke Wakutani, Danielle Moreno, Christine Sato, Edwin Yip, Renato P. Munhoz, Katja Lohmann, Ana Djarmati, Andrew Bi, Ekaterina Rogaeva

^*Corresponding author for this work

8 Citations (Scopus)

Abstract

Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.

Original language	English
Journal	Neurobiology of Aging
Volume	31
Issue number	4
Pages (from-to)	721-722
Number of pages	2
ISSN	0197-4580
DOIs	https://doi.org/10.1016/j.neurobiolaging.2008.05.030
Publication status	Published - 01.04.2010

Funding

This work was supported by grants from the National Parkinson Foundation (to CM and AEL), Parkinson Society of Canada, Canadian Institutes of Health Research, Japan-Canada, Canadian Institutes of Health Research, W. Garfield Weston Fellows (ER) and the Volkswagen Foundation (to CK). Appendix A

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

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10.1016/j.neurobiolaging.2008.05.030

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title = "LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation",

abstract = "Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.",

author = "Connie Marras and Christine Klein and Lang, \{Anthony E.\} and Yosuke Wakutani and Danielle Moreno and Christine Sato and Edwin Yip and Munhoz, \{Renato P.\} and Katja Lohmann and Ana Djarmati and Andrew Bi and Ekaterina Rogaeva",

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T1 - LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

AU - Marras, Connie

AU - Klein, Christine

AU - Lang, Anthony E.

AU - Wakutani, Yosuke

AU - Moreno, Danielle

AU - Sato, Christine

AU - Yip, Edwin

AU - Munhoz, Renato P.

AU - Lohmann, Katja

AU - Djarmati, Ana

AU - Bi, Andrew

AU - Rogaeva, Ekaterina

PY - 2010/4/1

Y1 - 2010/4/1

N2 - Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.

AB - Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.

UR - https://www.scopus.com/pages/publications/77049083850

U2 - 10.1016/j.neurobiolaging.2008.05.030

DO - 10.1016/j.neurobiolaging.2008.05.030

M3 - Journal articles

C2 - 18644660

AN - SCOPUS:77049083850

SN - 0197-4580

VL - 31

SP - 721

EP - 722

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 4

ER -

LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

Abstract

Funding

UN SDGs

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