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A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Parkinsonism Relat Disord. 2009 May; 15(4):273-6.PR

Abstract

We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.

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Authors+Show Affiliations

Lohmann E
INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris, France.
Leclere L
No affiliation info available
De Anna F
No affiliation info available
Lesage S
No affiliation info available
Dubois B
No affiliation info available
Agid Y
No affiliation info available
Dürr A
No affiliation info available
Brice A
No affiliation info available
French Parkinson's Disease Genetics Study Group
No affiliation info available

MeSH

AgedDNA Mutational AnalysisFamily HealthFemaleFranceGenetic Predisposition to DiseaseGlycineHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedMutationNeuropsychological TestsOlfaction DisordersParkinson DiseaseProtein-Serine-Threonine KinasesSerine

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18718805

Citation

Lohmann, Ebba, et al. "A Clinical, Neuropsychological and Olfactory Evaluation of a Large Family With LRRK2 Mutations." Parkinsonism & Related Disorders, vol. 15, no. 4, 2009, pp. 273-6.
Lohmann E, Leclere L, De Anna F, et al. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism Relat Disord. 2009;15(4):273-6.
Lohmann, E., Leclere, L., De Anna, F., Lesage, S., Dubois, B., Agid, Y., Dürr, A., & Brice, A. (2009). A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism & Related Disorders, 15(4), 273-6. https://doi.org/10.1016/j.parkreldis.2008.06.008
Lohmann E, et al. A Clinical, Neuropsychological and Olfactory Evaluation of a Large Family With LRRK2 Mutations. Parkinsonism Relat Disord. 2009;15(4):273-6. PubMed PMID: 18718805.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. AU - Lohmann,Ebba, AU - Leclere,Laurence, AU - De Anna,Francesca, AU - Lesage,Suzanne, AU - Dubois,Bruno, AU - Agid,Yves, AU - Dürr,Alexandra, AU - Brice,Alexis, AU - ,, Y1 - 2008/08/21/ PY - 2008/04/15/received PY - 2008/06/13/revised PY - 2008/06/20/accepted PY - 2008/8/23/pubmed PY - 2009/8/11/medline PY - 2008/8/23/entrez SP - 273 EP - 6 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 15 IS - 4 N2 - We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD. SN - 1873-5126 UR - https://www.unboundmedicine.com/medline/citation/18718805/A_clinical_neuropsychological_and_olfactory_evaluation_of_a_large_family_with_LRRK2_mutations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)00209-5 DB - PRIME DP - Unbound Medicine ER -