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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.

Authors+Show Affiliations

INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -