Thiago Junqueira Ribeiro de Rezende

Universidade Estadual de Campinas (UNICAMP)

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Marcondes C. França

Universidade Estadual de Campinas (UNICAMP)

Fernando Cendes

Universidade Estadual de Campinas (UNICAMP)

Alberto Martínez

Universidade Estadual de Campinas (UNICAMP)

ÍL

Íscia Lopes‐Cendes

Universidade Estadual de Campinas (UNICAMP)

Márcio Luiz Figueredo Balthazar

Universidade Estadual de Campinas (UNICAMP)

Brunno Machado de Campos

Universidade Estadual de Campinas (UNICAMP)

Orlando Graziani Póvoas Barsottini

Universidade Federal de São Paulo

José Luiz Pedroso

Universidade Federal de São Paulo

Anelyssa D’Abreu

University of Virginia

Thamires Naela Cardoso Magalhães

Texas A&M University

Cooperative Institutions

John Wiley & Sons (United States)

336

Universidade Estadual de Campinas (UNICAMP)

170

Hudson Institute

142

Hospital de Clínicas da Unicamp

Universidade de São Paulo

Istituti di Ricovero e Cura a Carattere Scientifico

Centre for Movement Disorders

University College London

Brazilian Institute of Neuroscience and Neurotechnology

Universidade Federal de São Paulo

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Annals of Neurology (2021)

Clifford B. Saper Christine Klein Justin C. McArthur Phillip L. Pearl Christopher Goetz

Canada & Mexico), €1286.00(Europe), £1020.00(UK), US$1993.00 (Rest of World).Prices are exclusive of tax.Asia-Pacific GST,

Annals

10.1002/ana.26221

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Cerebellar evaluation in Parkinson’s disease: gray matter analysis and its association with disease severity

Journal of the Neurological Sciences (2015)

Camila Piccinin Lidiane Campos Rachel Guimarães Luiza Piovesana Maria C. A. Santos

Lobe

Voxel-based morphometry

Cerebellar hemisphere

Cerebellar vermis

10.1016/j.jns.2015.08.989

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Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria (2021)

Maria Thereza Drumond Gama Flávio Moura Rezende Filho Thiago Junqueira Ribeiro de Rezende Pedro Braga‐Neto Marcondes C. França

Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease.We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected.We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months.Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

Machado–Joseph disease

10.1590/0004-282x-anp-2020-0386

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Differences in structural and functional DMN connectivity in amyloid‐positive AMCI who converted to AD dementia

Alzheimer s & Dementia (2020)

Márcio Luiz Figueredo Balthazar Thamires Naela Cardoso Magalhães Thiago Junqueira Ribeiro de Rezende Brunno de Campos Luciana Ramalho Pimentel‐Silva

Abstract Background Default Mode Network (DMN) has emerged as a potential biomarker of Alzheimer’s disease (AD), but it is not clear if it can differentiate amnestic mild cognitive impairment (aMCI) in the spectrum of AD (with altered amyloid‐ aMCI‐Aβ+) who will evolve to dementia. Methods 34 aMCI subjects with evidence of AD pathophysiology (low Aβ42 < 540 pg/mL) were followed for a median of 13 months. All subjects had CDR score of 0.5 (with an obligatory memory score of 0.5), poor performance on RAVLT, considering age and education and Fazekas Scale 0 or 1. White Matter (WM) microstructure was evaluated by diffusion tensor imaging ‐ DTI MultiAtlas; FC by UF 2 C; HV by Freesurfer softwares. We considered conversion from aMCI to AD dementia if CDR score changed from 0.5 to 1. We performed MANOVAs to differentiate the groups, considering age and time of reevaluation as covariables. Afterwards, we analyzed ROC curves with the variables that were significantly different between the groups. Results We found 8/34 converters (23.5%). Converters were older (p=0.049), but no other differences were found regarding sex, education, time of reevaluation and global cognitive performance in the first evaluation between the groups. aMCI‐Aβ+ converters had higher levels of tau (p=0.035), p‐tau (p=0.011) and a tendency to have smaller right HV (p=0.07). We did not find any significant result concerning DMN FC. However, we found that right cingulum parahippocampal bundle radial diffusivity was higher in aMCI‐Aβ+ converters (p=0.017), indicating myelinic dysfunction. Regarding ROC curve analyses, all significant variables showed moderate diagnostic accuracy: right cingulum parahippocampal bundle (AUC = 0.806), t‐tau (AUC = 0.788) and p‐tau (AUC = 0.706). Conclusion We found that structural (right parahippocampal cingulum bundle) but not functional DMN connectivity alterations may differentiate aMCI‐Aβ+ subjects who converted to AD dementia.

Clinical Dementia Rating

Cingulum (brain)

10.1002/alz.041219

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Measurement of retina/choroid complex perfusion with magnetic resonance imaging in eyes with acute primary angle-closure

Arquivos Brasileiros de Oftalmologia (2022)

Gabriel Ayub Brunno Machado de Campos Thiago Junqueira Ribeiro de Rezende Fernando Cendes José Paulo Cabral de Vasconcelos

To measure retina/choroid complex perfusion with magnetic resonance imaging in eyes with acute primary angle-closure (APAC).Three sequences of magnetic resonance imaging, two anatomical and one perfusional using gadolinium, were acquired in patients who were diagnosed with acute primary angle-closure. Regions of interest were drawn on the perfusional sequence and overlaid to the anatomical sequence. The relative blood volume measured during the first 2 s was considered as the baseline value and the change during the subsequent 28 s was analyzed.Five eyes of 5 patients with acute primary angle-closure were included (3 with unilateral and 2 with bilateral acute primary angle-closure). Three contralateral eyes and 2 eyes of 2 healthy patients, paired for age and sex, were included in the control group. Acute primary angle-closure patients included 4 (80%) women, with an average age of 65.8 ± 12.37 y, mean intraocular pressure of 56.2 ± 14.67 mmHg, mean arterial pressure of 113.4 ± 8.17 mmHg, and average ocular perfusion pressure of 57.2 ± 13.46 mmHg. In the control group, the mean intraocular pressure was 15.6 ± 2.61 mmHg (p=0.0625), the mean arterial pressure was 107.4 ± 6.57 mmHg (p=1.00), and the average ocular perfusion pressure was 91.8 ± 6.72 mmHg (p=0.0625). The relative blood volume of the retina/choroid complex was -0.127 ± 0.048 in acute primary angle-closure patients and -0.213 ± 0.116 in the controls (p=0.3125).The magnetic resonance imaging sequence with gadolinium did not show a change in the retina/choroid complex perfusion in the eyes of patients with acute primary angle-closure.

Choroid

10.5935/0004-2749.20220034

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Multimodal Longitudinal MRI Study in Amyotrophic Lateral Sclerosis (ALS) (P4.094)

Neurology (2016)

Milena de Albuquerque Helen Maia Tavares de Andrade Thiago Junqueira Ribeiro de Rezende Lucas Branco Anamarli Nucci

10.1212/wnl.86.16_supplement.p4.094

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Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA‐Ataxia

Movement Disorders (2022)

Thiago Junqueira Ribeiro de Rezende Isaac Adanyeguh Filippo Arrigoni Benjamin Bender Fernando Cendes

Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain unclear.

Degeneration (medical)

10.1002/mds.29261

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Tract‐Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia

Movement Disorders (2021)

Ana Luisa Hernandez Thiago Junqueira Ribeiro de Rezende Alberto Martínez Mariana Rabelo de Brito Marcondes C. França

Spinal cord (SC) damage is a hallmark in Friedreich's ataxia (FRDA). Neuroimaging has been able to capture some SC macroscopic changes, but no study has evaluated microstructural SC white matter (WM) damage in vivo.We designed a cross-sectional study to evaluate microstructural integrity in SC WM tracts of FRDA patients using diffusion tensor imaging (DTI) with an automated analysis pipeline.Thirty patients and 30 matched healthy controls underwent 3 Tesla (T) magnetic resonance imaging (MRI). We obtained cervical SC T2 and diffusion-weighted imaging (DWI) acquisitions. Images were processed using the Spinal Cord Toolbox v.4.3.0. For levels C2-C5, we measured cross-sectional area (CSA) and WM DTI parameters (axial diffusivity [AD], fractional anisotropy [FA], radial diffusivity [RD], and mean diffusivity [MD]). Age, duration, and FARS scores were also obtained.Mean age and disease duration of patients were 31 ± 10 and 11 ± 9 years, respectively. There was CSA reduction in FRDA amongst all levels. Between-group differences in FA, MD, and RD in total white matter (TWM), dorsal columns (DC), fasciculus gracilis (FG), fasciculus cuneatus (FC), and corticospinal tracts (CST) were present in all levels. FA and RD from TWM, DC, FC, and CST correlated with FARS scores, and in CST they also correlated with disease duration.DTI uncovered abnormalities in SC WM tracts, which correlated with clinical features in FRDA. CSA and CST FA in C2 correlated best with disease severity, whereas DC FA showed the largest effect size to differentiate patients and healthy controls. SC WM microstructure is a potential neuroimaging biomarker to be explored in the disease. © 2021 International Parkinson and Movement Disorder Society.

Fasciculus

Corticospinal tract

10.1002/mds.28841

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Dystonia in Machado-Joseph Disease (MJD/SCA3) is Associated with Thalamic and Brainstem Atrophy (P7.079)

Neurology (2014)

Alberto Martínez Marcelo Nunes Thiago Junqueira Ribeiro de Rezende Rachel Guimarães Anelyssa D’Abreu

OBJECTIVE: to compare MRI-based subcortical volumetry in MJD/SCA3 patients with (dMJD/SCA3) and without (c MJD/SCA3) dystonia. BACKGROUND:MJD/SCA3 is the most frequent spinocerebellar ataxia and has remarkable clinical heterogeneity, including movement disorders.Dystonia is frequent and sometimes disabling in MJD/SCA3, but its anatomical substrate is not yet known. DESIGN/METHODS:Demografic data (age, age at onset, gender), SARA (Scale for the Assessment and Rating of Ataxia) scores and (CAG) expansions were obtained for both groups. The Marsden-Fahn rating scale (MFR-S) was applied to quantify dystonia severity in dMJD/SCA3. Volumetric T1W images were acquired on a 3T device using 1mm slices, TE=3.2ms, TR=7.1ms, flip angle 8°, isotropic voxels of 1mm³, FOV=240x240. FreeSurfer software v.5.3 was used to measure subcortical volumes (brainstem, cerebellum, thalami and basal ganglia). We performed ANCOVAtest using subject´s age, gender and intracranial volume (eTIV) as covariates to compare groups. Next, we used a general linear model regression (corrected for head size through eTIV covariation) between MRI parameters and MFR-S. RESULTS:We included 33 cMJD/SCA3 (mean age 52.7±9.2y, 16men) and 19 dMJD/SCA3 (mean age 38.7±14.1y, 11men). dMJD/SCA3 patients had longer (CAG) expansions (75±3.9 vs 70±2.9, p<0.001) and earlier onset (29.6±13.3vs42.8±9.2 years, p=0.001) in comparison to patients in the cMJD/SCA3 group. Dystonic patients also had higher SARA scores (18.2±6.9 vs 12.9±6.9, p=0.017). Ten out of 19 dMJD/SCA3 had generalized dystonia, 2blepharospasm and 7 focal limb dystonia; mean MFR-S score was 16.5±12.6. Comparison between cMJD/SCA3 and dMJD/SCA3 patients showed significant volumetric reduction of the left cerebellum white matter (p=0.037), left thalamus (p=0.035) and brainstem (p=0.027) in the later group. Left cerebellum white matter volume was associated with MFR-S scores in dMJD/SCA3 group (r=0.601, p=0.043). CONCLUSIONS:Dystonia in MJD is associated with large (CAG) expansions, early onset as well as thalamic and brainstem atrophy. These results give insights into potential therapeutic targets for MJD-related dystonia. Study Supported by: Disclosure: Dr. Martinez has nothing to disclose. Dr. Nunes has nothing to disclose. Dr. Rezende has nothing to disclose. Dr. Guimaraes has nothing to disclose. Dr. D9Abreu has received personal compensation for activities with Roche Diagnostics Corp., Novartis, and EMS. Dr. Lopes-Cendes has nothing to disclose. Dr. Franca, Jr. has nothing to disclose.

Machado–Joseph disease

10.1212/wnl.82.10_supplement.p7.079

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Spinal Cord Damage in Spinocerebellar Ataxia Type 1

The Cerebellum (2017)

Carlos Roberto Martins Alberto Martínez Thiago Junqueira Ribeiro de Rezende Lucas Branco José Luiz Pedroso

10.1007/s12311-017-0854-9

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Citations (31)