RT Journal Article
T1 PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
A1 Aguiar Fernández, Pablo
A1 Pardo, Julio
A1 Arias, Manuel
A1 Quintáns, Beatriz
A1 Fernández Prieto, Montserrat
A1 Martínez Regueiro, Rocío
A1 Pumar Cebreiro, José Manuel
A1 Silva Rodríguez, Jesús
A1 Ruibal Morell, Álvaro
A1 Sobrido, María Jesús
A1 Cortés, Julia
K1 PET
K1 MRI
K1 ataxia
K1 neurodegeneration
K1 preataxic stage
AB Background: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. Methods: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans. Clinical motor evaluation was performed through the Scale for the Assessment and Rating of Ataxia (SARA). FDG-PET was carried out using a voxel-by-voxel and region-of-interest analysis. MRI evaluation was based on visual inspection and volumetric analysis. Results: SARA ranged from 0 to 24.5 (4 patients asymptomatic, 3 with unspecific symptoms, and 13 with cerebellar signs). FDG-PET revealed hypometabolism in the asymptomatic stage in the vermis and right cerebellar hemisphere. In the ataxic stage, hypometabolism spread to both cerebellar hemispheres and the brain stem. MRI was normal in asymptomatic and preataxic individuals and showed superior cerebellar vermis atrophy early in the ataxic stage, diffuse cerebellar atrophy some years into the disease course, and a pattern of olivopontocerebellar atrophy in the oldest patients. There was no significant cerebellar atrophy in patients younger than 50 years. Conclusions: We present the first FDG-PET study of SCA36 and one of the largest neuroimaging study of SCAs. Our results revealed neuronal dysfunctions in the vermis and right cerebellar hemisphere as soon as a decade before the onset of motor symptoms. In the ataxic stage, dysfunctions spread to both hemispheres and the brain stem.
PB International Parkinson and Movement Disorder Society
SN 0885-3185
YR 2017
FD 2017-02-20
LK https://hdl.handle.net/10347/46023
UL https://hdl.handle.net/10347/46023
LA eng
NO Aguiar, P., Pardo, J., Arias, M., Quintáns, B., Fernández-Prieto, M., Martínez-Regueiro, R., Pumar, J.-M., Silva-Rodríguez, J., Ruibal, Á., Sobrido, M.-J. and Cortés, J. (2017), PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36. Mov Disord., 32: 264-273. https://doi.org/10.1002/mds.26854
DS Minerva
RD 24 abr 2026