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Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease.
Neurology. 2013 Feb 12; 80(7):621-6.Neur

Abstract

OBJECTIVE

To ascertain in a cross-sectional study whether substantia nigra (SN) echogenicity, olfaction, and dopamine transporter (DaT)-SPECT are reliable premotor biomarkers in a cohort of asymptomatic carriers of the LRRK2 G2019S mutation (AsG2019S+).

METHODS

These biomarkers were evaluated in 49 AsG2019S+ patients, and we also studied olfaction and SN echogenicity in 29 patients with G2019S-associated Parkinson disease (PD-G2019S), 47 relatives who were noncarriers of the LRRK2 G2019S mutation (AsG2019S-), 50 patients with idiopathic Parkinson disease (iPD), and 50 community controls.

RESULTS

Eighty-five percent of unaffected mutation carriers (AsG2019S+) showed pathologic SN hyperechogenicity, with a similar proportion observed among both PD-G2019S and iPD cases, and 41% of AsG2019S- also showing increased SN echogenicity. The proportion of hyposmic individuals was not statistically different in patients with PD-G2019S (50%) and iPD (82%), but hyposmia was significantly less common in both AsG2019S+ (26%) and AsG2019S- (28%). In AsG2019S+ cases, reduced striatal uptake in DaT-SPECT was observed in 43.7%.

CONCLUSIONS

Independently of age at examination, the most frequently altered premotor biomarker in LRRK2 G2019S-associated PD was SN hyperechogenicity, whereas abnormal DaT-SPECT predominated in older, unaffected mutation carriers.

Authors+Show Affiliations

Neurology Service, Universitary Hospital Marqués de Valdecilla and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Spain.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 available

Pub Type(s)

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

Language

eng

PubMed ID

23325906

Citation

Sierra, Maria, et al. "Olfaction and Imaging Biomarkers in Premotor LRRK2 G2019S-associated Parkinson Disease." Neurology, vol. 80, no. 7, 2013, pp. 621-6.
Sierra M, Sánchez-Juan P, Martínez-Rodríguez MI, et al. Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. Neurology. 2013;80(7):621-6.
Sierra, M., Sánchez-Juan, P., Martínez-Rodríguez, M. I., González-Aramburu, I., García-Gorostiaga, I., Quirce, M. R., Palacio, E., Carril, J. M., Berciano, J., Combarros, O., & Infante, J. (2013). Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. Neurology, 80(7), 621-6. https://doi.org/10.1212/WNL.0b013e31828250d6
Sierra M, et al. Olfaction and Imaging Biomarkers in Premotor LRRK2 G2019S-associated Parkinson Disease. Neurology. 2013 Feb 12;80(7):621-6. PubMed PMID: 23325906.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. AU - Sierra,Maria, AU - Sánchez-Juan,Pascual, AU - Martínez-Rodríguez,María Isabel, AU - González-Aramburu,Isabel, AU - García-Gorostiaga,Inés, AU - Quirce,María Remedios, AU - Palacio,Enrique, AU - Carril,José Manuel, AU - Berciano,José, AU - Combarros,Onofre, AU - Infante,Jon, Y1 - 2013/01/16/ PY - 2013/1/18/entrez PY - 2013/1/18/pubmed PY - 2013/4/9/medline SP - 621 EP - 6 JF - Neurology JO - Neurology VL - 80 IS - 7 N2 - OBJECTIVE: To ascertain in a cross-sectional study whether substantia nigra (SN) echogenicity, olfaction, and dopamine transporter (DaT)-SPECT are reliable premotor biomarkers in a cohort of asymptomatic carriers of the LRRK2 G2019S mutation (AsG2019S+). METHODS: These biomarkers were evaluated in 49 AsG2019S+ patients, and we also studied olfaction and SN echogenicity in 29 patients with G2019S-associated Parkinson disease (PD-G2019S), 47 relatives who were noncarriers of the LRRK2 G2019S mutation (AsG2019S-), 50 patients with idiopathic Parkinson disease (iPD), and 50 community controls. RESULTS: Eighty-five percent of unaffected mutation carriers (AsG2019S+) showed pathologic SN hyperechogenicity, with a similar proportion observed among both PD-G2019S and iPD cases, and 41% of AsG2019S- also showing increased SN echogenicity. The proportion of hyposmic individuals was not statistically different in patients with PD-G2019S (50%) and iPD (82%), but hyposmia was significantly less common in both AsG2019S+ (26%) and AsG2019S- (28%). In AsG2019S+ cases, reduced striatal uptake in DaT-SPECT was observed in 43.7%. CONCLUSIONS: Independently of age at examination, the most frequently altered premotor biomarker in LRRK2 G2019S-associated PD was SN hyperechogenicity, whereas abnormal DaT-SPECT predominated in older, unaffected mutation carriers. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/23325906/Olfaction_and_imaging_biomarkers_in_premotor_LRRK2_G2019S_associated_Parkinson_disease_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=23325906 DB - PRIME DP - Unbound Medicine ER -