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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 bio-marker in LRRK2 G2019S-associated PD was SN hyperechogenicity, whereas abnormal DaT-SPECT predominated in older, unaffected mutation carriers.
Fuente: Neurology, 2013, 80(7), 621-626
Editorial: American Academy of Neurology
Fecha de publicación: 01/02/2013
Nº de páginas: 6
Tipo de publicación: Artículo de Revista
DOI: 10.1212/WNL.0b013e31828250d6
ISSN: 0028-3878,1526-632X
Url de la publicación: https://doi.org/10.1212/WNL.0b013e31828250d6
Leer publicación
MARIA SIERRA PEÑA
PASCUAL SANCHEZ JUAN
Mª ISABEL MARTINEZ RODRIGUEZ
ISABEL GONZALEZ ARAMBURU
GARCÍA GOROSTIAGA, INÉS
REMEDIOS QUIRCE PISANO
ENRIQUE JESUS PALACIO PORTILLA
JOSE MANUEL CARRIL CARRIL
JOSE ANGEL BERCIANO BLANCO
ONOFRE COMBARROS PASCUAL
JON INFANTE CEBERIO
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