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Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data.
Neurology. 2008 Sep 23; 71(13):1021-6.Neur

Abstract

BACKGROUND

Mutations in PARK8 (LRRK2) are associated with autosomal dominant parkinsonism and Parkinson disease (PD). Hyposmia is present in at least 80% of patients with PD and an accumulation of alpha-synuclein (alpha-syn) is seen in the olfactory pathways. In this study we have clinically examined olfaction and pathologically examined the rhinencephalon in individuals carrying the G2019S LRRK2 mutation.

METHODS

The University of Pennsylvania Smell Test (UPSIT) was used to evaluate the sense of smell in 19 parkinsonian and two asymptomatic carriers of the G2019S mutation and compared with groups of patients with PD and healthy controls. Postmortem examination of alpha-syn accumulation in the rhinencephalon was also carried out in four parkinsonian carriers of the G2019S mutation.

RESULTS

The mean UPSIT score in G2019S parkinsonian carriers was lower than that in healthy controls (p < 0.001) and similar to that found in patients with PD (p > 0.999). Smell tests in two asymptomatic carriers of the G2019S mutation were in the normal range. Postmortem studies of the olfactory pathways in one of the patients who had been clinically tested, and found to have hyposmia, and three other cases with the G2019S mutation, revealed alpha-syn deposition in the olfactory pathways in all cases.

CONCLUSIONS

Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction. We found alpha-syn accumulation with Lewy bodies in the rhinencephalon in all four cases examined pathologically.

Authors+Show Affiliations

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.No 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)

Journal Article

Language

eng

PubMed ID

18809839

Citation

Silveira-Moriyama, L, et al. "Hyposmia in G2019S LRRK2-related Parkinsonism: Clinical and Pathologic Data." Neurology, vol. 71, no. 13, 2008, pp. 1021-6.
Silveira-Moriyama L, Guedes LC, Kingsbury A, et al. Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. Neurology. 2008;71(13):1021-6.
Silveira-Moriyama, L., Guedes, L. C., Kingsbury, A., Ayling, H., Shaw, K., Barbosa, E. R., Bonifati, V., Quinn, N. P., Abou-Sleiman, P., Wood, N. W., Petrie, A., Sampaio, C., Ferreira, J. J., Holton, J., Revesz, T., & Lees, A. J. (2008). Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. Neurology, 71(13), 1021-6. https://doi.org/10.1212/01.wnl.0000326575.20829.45
Silveira-Moriyama L, et al. Hyposmia in G2019S LRRK2-related Parkinsonism: Clinical and Pathologic Data. Neurology. 2008 Sep 23;71(13):1021-6. PubMed PMID: 18809839.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. AU - Silveira-Moriyama,L, AU - Guedes,L C, AU - Kingsbury,A, AU - Ayling,H, AU - Shaw,K, AU - Barbosa,E R, AU - Bonifati,V, AU - Quinn,N P, AU - Abou-Sleiman,P, AU - Wood,N W, AU - Petrie,A, AU - Sampaio,C, AU - Ferreira,J J, AU - Holton,J, AU - Revesz,T, AU - Lees,A J, PY - 2008/9/24/pubmed PY - 2008/10/22/medline PY - 2008/9/24/entrez SP - 1021 EP - 6 JF - Neurology JO - Neurology VL - 71 IS - 13 N2 - BACKGROUND: Mutations in PARK8 (LRRK2) are associated with autosomal dominant parkinsonism and Parkinson disease (PD). Hyposmia is present in at least 80% of patients with PD and an accumulation of alpha-synuclein (alpha-syn) is seen in the olfactory pathways. In this study we have clinically examined olfaction and pathologically examined the rhinencephalon in individuals carrying the G2019S LRRK2 mutation. METHODS: The University of Pennsylvania Smell Test (UPSIT) was used to evaluate the sense of smell in 19 parkinsonian and two asymptomatic carriers of the G2019S mutation and compared with groups of patients with PD and healthy controls. Postmortem examination of alpha-syn accumulation in the rhinencephalon was also carried out in four parkinsonian carriers of the G2019S mutation. RESULTS: The mean UPSIT score in G2019S parkinsonian carriers was lower than that in healthy controls (p < 0.001) and similar to that found in patients with PD (p > 0.999). Smell tests in two asymptomatic carriers of the G2019S mutation were in the normal range. Postmortem studies of the olfactory pathways in one of the patients who had been clinically tested, and found to have hyposmia, and three other cases with the G2019S mutation, revealed alpha-syn deposition in the olfactory pathways in all cases. CONCLUSIONS: Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction. We found alpha-syn accumulation with Lewy bodies in the rhinencephalon in all four cases examined pathologically. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/18809839/Hyposmia_in_G2019S_LRRK2_related_parkinsonism:_clinical_and_pathologic_data_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&amp;pmid=18809839 DB - PRIME DP - Unbound Medicine ER -