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Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
Parkinsonism Relat Disord. 2015 Oct; 21(10):1170-6.PR

Abstract

BACKGROUND

Substantia nigra hyperechogenicity (SN+) has been proposed as a risk marker of Parkinson's disease (PD). Asymptomatic LRRK2 mutation carriers (aLRRK2+), at high risk for developing PD, provide an opportunity for the study of preclinical biomarkers.

OBJECTIVE

To assess SN echogenicity and other echographic features in LRRK2 G2019S carriers and their clinical and imaging correlates.

METHODS

Transcranial sonography was performed in 26 LRRK2 G2019S PD patients, 50 first-degree relatives, 31 idiopathic PD (IPD) patients and 26 controls. SN echogenicity and other echographic features were assessed in all study subjects. Dopamine transporter imaging (DAT-SPECT) was performed in 29 first-degree relatives.

RESULTS

75% of the LRRK2-PD and 87.5% of the IPD showed SN+ (p = 0.087). aLRRK2+ had a higher frequency of SN+ than non carriers (58.3% vs. 25%, p = 0.039) and controls (58.3% vs. 12.5%; p = 0.002) and had a larger area of SN echogenicity than non carriers (p = 0.030) and controls (p < 0.001). The width of the third ventricle was significantly lower in LRRK2-PD than in IPD (1.9 mm [1.38; 2.75] vs. 3.0 mm [2.3; 5.3]; p = 0.003). Four out of 5 (80%) of the aLRRK2+ with an abnormal DAT-SPECT and four of the 5 (80%) of those with REM sleep behaviour disorder (RBD) had SN+.

CONCLUSIONS

SN+ is very frequent in LRRK2-PD and aLRRK2+. Most aLRRK2 with possible surrogate markers of PD such as abnormal DAT-SPECT or RBD, also had SN+, which supports that this echofeature might be a marker of PD in these asymptomatic population.

Authors+Show Affiliations

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.Neurology Service, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain.Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain.Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain.Neurology Service, Hospital Universitari Vall D'Hebron, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari Vall D'Hebron, Barcelona, Catalonia, Spain.Neurology Service, Hospital Del Mar, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari de Bellvitge, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari de Bellvitge, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari de Bellvitge, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari Mutua de Terrasa, Barcelona, Catalonia, Spain.Neurology Service, Hospital Universitari Mutua de Terrasa, Barcelona, Catalonia, Spain.Hospital Mateu Orfila, Maó, Menorca, Spain.Nuclear Medicine Service, Hospital Clinic, University of Barcelona, Barcelona, Catalonia, Spain.Biostatistics and Data Management Core Facility, IDIBAPS, (Hospital Clinic), Barcelona, Spain; Biostatistics Unit, Faculty of Medicine, Universitat Autònoma de Barcelona, Catalonia, Spain.Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address: etolosa@clinic.ub.es.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26306001

Citation

Vilas, Dolores, et al. "Clinical and Imaging Markers in Premotor LRRK2 G2019S Mutation Carriers." Parkinsonism & Related Disorders, vol. 21, no. 10, 2015, pp. 1170-6.
Vilas D, Ispierto L, Álvarez R, et al. Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers. Parkinsonism Relat Disord. 2015;21(10):1170-6.
Vilas, D., Ispierto, L., Álvarez, R., Pont-Sunyer, C., Martí, M. J., Valldeoriola, F., Compta, Y., de Fabregues, O., Hernández-Vara, J., Puente, V., Calopa, M., Jaumà, S., Campdelacreu, J., Aguilar, M., Quílez, P., Casquero, P., Lomeña, F., Ríos, J., & Tolosa, E. (2015). Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers. Parkinsonism & Related Disorders, 21(10), 1170-6. https://doi.org/10.1016/j.parkreldis.2015.08.007
Vilas D, et al. Clinical and Imaging Markers in Premotor LRRK2 G2019S Mutation Carriers. Parkinsonism Relat Disord. 2015;21(10):1170-6. PubMed PMID: 26306001.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers. AU - Vilas,Dolores, AU - Ispierto,Lourdes, AU - Álvarez,Ramiro, AU - Pont-Sunyer,Claustre, AU - Martí,María José, AU - Valldeoriola,Francesc, AU - Compta,Yaroslau, AU - de Fabregues,Oriol, AU - Hernández-Vara,Jorge, AU - Puente,Víctor, AU - Calopa,Matilde, AU - Jaumà,Serge, AU - Campdelacreu,Jaume, AU - Aguilar,Miquel, AU - Quílez,Pilar, AU - Casquero,Pilar, AU - Lomeña,Francisco, AU - Ríos,José, AU - Tolosa,Eduardo, Y1 - 2015/08/12/ PY - 2015/04/03/received PY - 2015/08/04/revised PY - 2015/08/10/accepted PY - 2015/8/26/entrez PY - 2015/8/26/pubmed PY - 2016/8/5/medline KW - Genetic KW - LRRK2 KW - Parkinson KW - Substantia nigra KW - Transcranial ultrasound SP - 1170 EP - 6 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 21 IS - 10 N2 - BACKGROUND: Substantia nigra hyperechogenicity (SN+) has been proposed as a risk marker of Parkinson's disease (PD). Asymptomatic LRRK2 mutation carriers (aLRRK2+), at high risk for developing PD, provide an opportunity for the study of preclinical biomarkers. OBJECTIVE: To assess SN echogenicity and other echographic features in LRRK2 G2019S carriers and their clinical and imaging correlates. METHODS: Transcranial sonography was performed in 26 LRRK2 G2019S PD patients, 50 first-degree relatives, 31 idiopathic PD (IPD) patients and 26 controls. SN echogenicity and other echographic features were assessed in all study subjects. Dopamine transporter imaging (DAT-SPECT) was performed in 29 first-degree relatives. RESULTS: 75% of the LRRK2-PD and 87.5% of the IPD showed SN+ (p = 0.087). aLRRK2+ had a higher frequency of SN+ than non carriers (58.3% vs. 25%, p = 0.039) and controls (58.3% vs. 12.5%; p = 0.002) and had a larger area of SN echogenicity than non carriers (p = 0.030) and controls (p < 0.001). The width of the third ventricle was significantly lower in LRRK2-PD than in IPD (1.9 mm [1.38; 2.75] vs. 3.0 mm [2.3; 5.3]; p = 0.003). Four out of 5 (80%) of the aLRRK2+ with an abnormal DAT-SPECT and four of the 5 (80%) of those with REM sleep behaviour disorder (RBD) had SN+. CONCLUSIONS: SN+ is very frequent in LRRK2-PD and aLRRK2+. Most aLRRK2 with possible surrogate markers of PD such as abnormal DAT-SPECT or RBD, also had SN+, which supports that this echofeature might be a marker of PD in these asymptomatic population. SN - 1873-5126 UR - https://www.unboundmedicine.com/medline/citation/26306001/Clinical_and_imaging_markers_in_premotor_LRRK2_G2019S_mutation_carriers_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(15)00339-9 DB - PRIME DP - Unbound Medicine ER -