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Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.
Neurology. 2011 Jul 26; 77(4):325-33.Neur

Abstract

OBJECTIVES

Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls.

METHODS

Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories.

RESULTS

Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status.

CONCLUSIONS

Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis.

Authors+Show Affiliations

Toronto Western Hospital, Edmond J. Safra Program in Parkinson’s Disease, Toronto, ON M5T 2S8 Canada. cmarras@uhnresearch.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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)

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

Language

eng

PubMed ID

21753163

Citation

Marras, C, et al. "Phenotype in Parkinsonian and Nonparkinsonian LRRK2 G2019S Mutation Carriers." Neurology, vol. 77, no. 4, 2011, pp. 325-33.
Marras C, Schüle B, Schuele B, et al. Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology. 2011;77(4):325-33.
Marras, C., Schüle, B., Schuele, B., Munhoz, R. P., Rogaeva, E., Langston, J. W., Kasten, M., Meaney, C., Klein, C., Wadia, P. M., Lim, S. Y., Chuang, R. S., Zadikof, C., Steeves, T., Prakash, K. M., de Bie, R. M., Adeli, G., Thomsen, T., Johansen, K. K., ... Lang, A. E. (2011). Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology, 77(4), 325-33. https://doi.org/10.1212/WNL.0b013e318227042d
Marras C, et al. Phenotype in Parkinsonian and Nonparkinsonian LRRK2 G2019S Mutation Carriers. Neurology. 2011 Jul 26;77(4):325-33. PubMed PMID: 21753163.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. AU - Marras,C, AU - Schüle,B, AU - Schuele,B, AU - Munhoz,R P, AU - Rogaeva,E, AU - Langston,J W, AU - Kasten,M, AU - Meaney,C, AU - Klein,C, AU - Wadia,P M, AU - Lim,S-Y, AU - Chuang,R S-I, AU - Zadikof,C, AU - Steeves,T, AU - Prakash,K M, AU - de Bie,R M A, AU - Adeli,G, AU - Thomsen,T, AU - Johansen,K K, AU - Teive,H A, AU - Asante,A, AU - Reginold,W, AU - Lang,A E, Y1 - 2011/07/13/ PY - 2011/7/15/entrez PY - 2011/7/15/pubmed PY - 2011/9/29/medline SP - 325 EP - 33 JF - Neurology JO - Neurology VL - 77 IS - 4 N2 - OBJECTIVES: Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. METHODS: Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories. RESULTS: Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status. CONCLUSIONS: Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/21753163/Phenotype_in_parkinsonian_and_nonparkinsonian_LRRK2_G2019S_mutation_carriers_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=21753163 DB - PRIME DP - Unbound Medicine ER -