Navegando por Palavras-chave "Machado-Joseph disease"
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- ItemSomente MetadadadosAkathisia: An unusual movement disorder in Machado-Joseph disease(Elsevier B.V., 2011-11-01) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Felicio, Andre C. [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Jardim, Laura B.; Saraiva-Pereira, Maria Luiza; Universidade Federal de São Paulo (UNIFESP); Univ Fed Rio Grande do Sul
- ItemAcesso aberto (Open Access)Avaliação clínica e neurofisiológica do sistema nervoso periférico na doença de Machado-Joseph(Universidade Federal de São Paulo (UNIFESP), 2014-09-30) Bezerra, Marcio Luiz Escorcio [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Machado Joseph disease (MJD) or spinocerebellar ataxia (SCA) type 3 (SCA3) is the most common autosomal SCA worldwide. It is characterized by progressive cerebellar ataxia, pyramidal signs, progressive external ophthalmoplegia and variable degrees of extrapyramidal involvement. Neuropathy is a well-recognized feature in MJD, but the pattern of nerve involvement is still a matter of debate. Objective: study the peripheral nerve involvement in MJD patients. Clinical and neurophysiological evaluation was performed with the objective of characterizing the pattern of nerve involvement in these individuals. Aiming to distinguish mainly among neuronopathy and distal axonopathy. Methods: in this study, 26 patients with MJD, with molecular diagnosis, were evaluated clinically and through neurophysiological methods. The clinical and neurophysiological data were compared and correlated. The pattern of nerve involvement was defined based on the abnormalities found on the neurophysiological study. Then this information was correlated with the clinical data. Results: the neurophysiological evaluation showed neuropathy n 42,5% of the patients. Among those, 81,85 showed neurophysiological signs suggesting neuronopathy. Conclusion: in the MJD sample analyzed, neuronopathy was the most common type of peripheral nerve involvement.
- ItemSomente MetadadadosCerebellar Cognitive Affective Syndrome in Machado Joseph Disease: Core Clinical Features(Springer, 2012-06-01) Braga-Neto, Pedro [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Alessi, Helena [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Felicio, Andre Carvalho [UNIFESP]; Minett, Thais [UNIFESP]; Weisman, Patricia [UNIFESP]; Santos-Galduroz, Ruth F.; Bertolucci, Paulo Henrique F. [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hosp Israelita Albert Einstein; Univ Cambridge; Universidade Federal do ABC (UFABC); UNESPThe cerebellum is no longer considered a purely motor control device, and convincing evidence has demonstrated its relationship to cognitive and emotional neural circuits. the aims of the present study were to establish the core cognitive features in our patient population and to determine the presence of Cerebellar Cognitive Affective Syndrome (CCAS) in this group. We recruited 38 patients with spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD)-SCA3/MJD and 31 controls. Data on disease status were recorded (disease duration, age, age at onset, ataxia severity, and CAG repeat length). the severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. the neuropsychological assessment consisted of the Mini-Mental State Examination, Clock Drawing Test, Wechsler Adult Intelligence Scale, Rey-Osterrieth Complex Figure, Wisconsin Card Sorting Test, Stroop Color-Word Test, Trail-Making Test, Verbal Paired Associates, and verbal fluency tests. All subjects were also submitted to the Hamilton Anxiety Scale and Beck Depression Inventory. After controlling for multiple comparisons, spatial span, picture completion, symbol search, Stroop Color-Word Test, phonemic verbal fluency, and Trail-Making Tests A and B were significantly more impaired in patients with SCA3/MJD than in controls. Executive and visuospatial functions are impaired in patients with SCA3/MJD, consistent with the symptoms reported in the CCAS. We speculate on a possible role in visual cortical processing degeneration and executive dysfunction in our patients as a model to explain their main cognitive deficit.
- ItemSomente MetadadadosCognitive and olfactory deficits in Machado-Joseph disease: A dopamine transporter study(Elsevier B.V., 2012-08-01) Braga-Neto, Pedro [UNIFESP]; Felicio, Andre C.; Hoexter, Marcelo Q. [UNIFESP]; Pedroso, Jose Luiz; Dutra, Livia Almeida; Alessi, Helena; Minett, Thais [UNIFESP]; Santos-Galduroz, Ruth F.; Rocha, Antonio Jose da; Garcia, Lucas A. L.; Bertolucci, Paulo Henrique F.; Bressan, Rodrigo A. [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Univ Cambridge; Universidade Federal do ABC (UFABC); Univ Estadual Paulista; Santa Casa Misericordia São Paulo; Beneficencia Portuguesa São PauloCognitive and olfactory impairments have been demonstrated in patients with Machado-Joseph disease (MJD), and a possible relationship with dopaminergic dysfunction is implicated. However, there is still controversy regarding the pattern of striatal dopaminergic dysfunction in patients with MJD. in this study, we investigated whether these patients had different Dopamine Transporter (DAT) densities as compared to healthy subjects, and correlated these data with cognitive performance and sense of smell. Twenty-two MJD patients and 20 control subjects were enrolled. the neuropsychological assessment comprised the Spatial Span, Symbol Search, Picture Completion, Stroop Color Word Test, Trail Making Test and Phonemic Verbal Fluency test. the 16-item Sniffin' Sticks was used to evaluate odor identification. DAT imaging was performed using the SPECT radioligand [Tc-99m]-TRODAT-1, alongside with Magnetic Resonance imaging. Patients with MJD showed significantly lower DAT density in the caudate (1.34 +/- 0.27 versus 2.02 +/- 0.50, p < 0.001), posterior putamen (0.81 +/- 0.32 versus 1.32 +/- 0.34, p < 0.001) and anterior putamen (1.10 +/- 0.31 versus 1.85 +/- 0.45, p < 0.001) compared with healthy controls. the putamen/caudate ratio was also significantly lower in patients compared with controls (0.73 +/- 0.038 versus 0.85 +/- 0.032, p = 0.027). Even though we had only two patients with parkinsonisrn, we detected striatal dopaminergic deficits in those patients. No significant correlations were detected between DAT density and cognitive performance or Sniffin' Sticks scores. the data suggests that striatal dopamine deficit is not involved in cognitive or sense of smell deficits. This finding raises the possibility of extra-striatal dopamine and other neurotransmitter system involvement or of cerebellum neurodegeneration exerting a direct influence on cognitive and sensorial information processing in MJD. (C) 2012 Elsevier B.V. All rights reserved.
- ItemSomente MetadadadosCognitive Deficits in Machado-Joseph Disease Correlate with Hypoperfusion of Visual System Areas(Springer, 2012-12-01) Braga-Neto, Pedro [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Felicio, Andre C. [UNIFESP]; Alessi, Helena [UNIFESP]; Santos-Galduroz, Ruth F.; Bertolucci, Paulo Henrique F. [UNIFESP]; Castiglioni, Mario Luiz V. [UNIFESP]; Bressan, Rodrigo Affonseca [UNIFESP]; Jara de Garrido, Griselda Esther; Barsottini, Orlando Graziani Povoas [UNIFESP]; Jackowski, Andrea [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Federal do ABC (UFABC); Univ Estadual Paulista; Univ Western AustraliaCognitive and olfactory impairments have previously been demonstrated in patients with spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD)-SCA3/MJD. We investigated changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) imaging in a cohort of Brazilian patients with SCA3/MJD. the aim of the present study was to evaluate the correlation among rCBF, cognitive deficits, and olfactory dysfunction in SCA3/MJD. Twenty-nine genetically confirmed SCA3/MJD patients and 25 control subjects were enrolled in the study. the severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. Psychiatric symptoms were evaluated by the Hamilton Anxiety Scale and Beck Depression Inventory. the neuropsychological assessment consisted of Spatial Span, Symbol Search, Picture Completion, the Stroop Color Word Test, Trail Making Test (TMT), and Phonemic Verbal Fluency. Subjects were also submitted to odor identification evaluation using the 16-item Sniffin' Sticks. SPECT was performed using ethyl cysteine dimer labeled with technetium-99m. SCA3/MJD patients showed reduced brain perfusion in the cerebellum, temporal, limbic, and occipital lobes compared to control subjects (pFDR < 0.001). A significant positive correlation was found between the Picture Completion test and perfusion of the left parahippocampal gyrus and basal ganglia in the patient group as well as a negative correlation between the TMT part A and bilateral thalamus perfusion. the visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease.
- ItemSomente MetadadadosExcessive fragmentary myoclonus in Machado-Joseph disease(Elsevier B.V., 2014-03-01) Santos, Diogo Fernandes dos [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Fontes Silva, Giselle Melo [UNIFESP]; Coin de Carvalho, Luciane Bizari [UNIFESP]; Prado, Lucila B. F. [UNIFESP]; Barsottini, Orlando Graziani P. [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Objective: Machado-Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as Parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease. Some data have demonstrated a high frequency of sleep disorders in these patients, including excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA), rapid eye movement (REM) sleep behavior disorder (RBD), and restless legs syndrome (RLS). Herein, we aimed to describe the high frequency of excessive fragmentary myoclonus (EFM) in MJD.Materials and methods: We recruited 44 patients with MJD and 44 healthy controls. All participants underwent an all-night polysomnography (PSG). EFM was evaluated and defined in accordance to the criteria of the American Academy of Sleep Medicine.Results: Half of the MJD patients (n = 22) had EFM diagnosed through PSG, though no healthy control participant presented this finding (P < .0001). in the MJD group, older participants and men had a higher frequency of EFM. There was no correlation between EFM and the following data: body mass index (BMI), apnea-hypopnea index (AHI), EDS, loss of atonia during REM sleep, periodic limb movements during sleep (PLMS), RLS, RBD, ataxia severity, the number of cytosine-adenine- guanine trinucleotide (CAG) repeats, disease duration, sleep efficiency, sleep fragmentation, and sleep stage percentages between patients with or without EFM.Conclusion: EFMis highly prevalent in patients with MJD. Our study demonstrates that EFM must be included in the clinical spectrum of sleep disorders in MJD patients. (C) 2014 Elsevier B.V. All rights reserved.
- ItemSomente MetadadadosIs Neuropathy Involved with Restless Legs Syndrome in Machado-Joseph Disease?(Karger, 2011-01-01) Pedroso, Jose Luiz [UNIFESP]; Escorcio Bezerra, Marcio Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Pinheiro, Denise Spinola [UNIFESP]; Minett, Thais [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Objective: To evaluate a group of spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) (SCA3/MJD) patients and assess whether there is an association between neuropathy and serum ferritin levels and restless legs syndrome (RLS). Methods: Twenty-six SCA3/MJD patients underwent electromyography studies to check for neuropathy. Their serum ferritin levels were measured as well. These findings were evaluated based on the presence or not of RLS and its severity. Results: the proportion of neuropathy in the RLS group was not significantly higher compared to the non-RLS group (23 vs. 15%, Fisher's exact test, p = 1.000). Furthermore, no association was found between RLS and ferritin levels. Conclusion: We found no correlation between neuropathy or ferritin levels and RLS in SCA3/MJD patients. Copyright (C) 2011 S. Karger AG, Basel
- ItemAcesso aberto (Open Access)Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia(Academia Brasileira de Neurologia - ABNEURO, 2012-08-01) Pedroso, José Luiz [UNIFESP]; Braga-neto, Pedro [UNIFESP]; Radvany, João; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Israelita Albert EinsteinMachado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.
- ItemSomente MetadadadosA multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3(Wiley-Blackwell, 2013-07-01) Guimaraes, Rachel P.; D'Abreu, Anelyssa; Yasuda, Clarissa L.; Franca, Marcondes C.; Silva, Beatriz H. B.; Cappabianco, Fabio A. M. [UNIFESP]; Bergo, Felipe P. G.; Lopes-Cendes, Iscia T.; Cendes, Fernando; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)Although white matter damage may play a major role in the pathogenesis of spinocerebellar ataxia 3 (SCA3), available data rely exclusively upon macrostructural analyses. in this setting we designed a study to investigate white matter integrity. We evaluated 38 genetically-confirmed SCA3 patients (mean age, 52.76 +/- 12.70 years; 21 males) with clinical scales and brain magnetic resonance imaging (MRI) and 38 healthy subjects as a control group (mean age, 48.86 +/- 12.07 years, 20 male). All individuals underwent the same protocol for high-resolution T1 and T2 images and diffusion tensor imaging acquisition (32 directions) in a 3-T scanner. We used Tract-Based Spatial Statistics (FSL 4.1.4) to analyze diffusion data and SPM8/DARTEL for voxel-based morphometry of infratentorial structures. T2-relaxometry of cerebellum was performed with in-house-developed software Aftervoxel and Interactive Volume Segmentation (IVS). Patients' mean age at onset was 40.02 +/- 11.48 years and mean duration of disease was 9.3 +/- 2.7 years. Mean International Cooperative Ataxia Rating Scale (ICARS) and Scale for Assessment and Rating of Ataxia (SARA) scores were 32.08 +/- 4.01 and 14.65 +/- 7.33, respectively. Voxel-based morphometry demonstrated a volumetric reduction of gray and white matter in cerebellum and brainstem (P <.001). We found reduced fractional anisotropy (P <.05) in the cerebellum and brainstem. There were also areas of increased radial diffusivity (P <.05) in the cerebellum, brainstem, thalamus, frontal lobes, and temporal lobes. in addition, we found decreased T2-relaxation values in the white matter of the right cerebellar hemisphere. Microstructural white matter dysfunction, not previously reported, occurs in the cerebellum and brainstem of SCA3 patients. (c) 2013 Movement Disorder Society
- ItemSomente MetadadadosNeurophysiological Studies and Non-Motor Symptoms Prior to Ataxia in a Patient with Machado-Joseph Disease: Trying to Understand the Natural History of Brain Degeneration(Springer, 2014-08-01) Pedroso, Jose Luiz [UNIFESP]; Bor-Seng-Shu, Edson; Braga-Neto, Pedro [UNIFESP]; Ribeiro, Rodrigo Souza [UNIFESP]; Escorcio Bezerra, Marcio Luiz [UNIFESP]; Prado, Lucila B. F. do [UNIFESP]; Batista, Ilza Rosa [UNIFESP]; Alessi, Helena [UNIFESP]; Teixeira, Manoel Jacobsen; Manzano, Gilberto Mastrocola [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hosp Israelita Albert Einstein; Universidade de São Paulo (USP); Univ Estadual CearaSpinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia. in this neurological disease, anatomical, physiological, clinical, and functional neuroimaging demonstrate a degenerative process besides the cerebellum. We performed neurophysiological and neuroimaging studies-polysomnography, transcranial sonography, vestibular-evoked myogenic potential, single-photon emission computed tomography (SPECT) with Tc-99m-TRODAT-1, and a formal neuropsychological evaluation in a patient with sleep complaints and positive testing for Machado-Joseph disease, without cerebellar atrophy, ataxia, or cognitive complaints. Polysomnography disclosed paradoxical high amplitude of submental muscle, characterizing REM sleep without atonia phenomenon. Transcranial sonography showed hyperechogenicity of the substantia nigra. There was an absence of vestibular-evoked myogenic potentials on both sides in the patient under study, in opposite to 20 healthy subjects. Brain imaging SPECT with Tc-99m-TRODAT-1 demonstrated a significant lower DAT density than the average observed in six healthy controls. Electroneuromyography was normal. Neuropsychological evaluation demonstrated visuospatial and memory deficits. Impairment of midbrain cholinergic and pontine noradrenergic systems, dysfunction of the pre-synaptic nigrostriatal system, changes in echogenicity of the substantia nigra, and damage to vestibulo-cervical pathways are supposed to occur previous to cerebellar involvement in Machado-Joseph disease.
- ItemSomente MetadadadosNonmotor and extracerebellar features in Machado-Joseph disease: A review(Wiley-Blackwell, 2013-08-01) Pedroso, Jose Luiz [UNIFESP]; Franca, Marcondes C.; Braga-Neto, Pedro [UNIFESP]; D'Abreu, Anelyssa; Saraiva-Pereira, Maria Luiza; Saute, Jonas Alex; Teive, Helio Afonso Ghizoni; Caramelli, Paulo; Jardim, Laura Bannach; Lopes-Cendes, Iscia; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP); Univ Fed Rio Grande do Sul; Hosp Clin Porto Alegre; Universidade Federal do Paraná (UFPR); Universidade Federal de Minas Gerais (UFMG)Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. the main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. in addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. (c) 2013 Movement Disorder Society
- ItemSomente MetadadadosNREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation(Wiley-Blackwell, 2016) Fontes Silva, Giselle Melo [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Dos Santos, Diogo Fernandes [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Prado, Lucila Bizari Fernandes Do [UNIFESP]; Carvalho, Luciane Bizari Coin De [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Do Prado, Gilmar Fernandes [UNIFESP]Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)MJD/SCA3is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnography. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P<0.001), parasomnia complaints (confusional arousal/sleep terrors, P=0.001; RBD, P<0.001; and nightmares, P<0.001), REM sleep without atonia (P<0.001), periodic limb movements of sleep index (PLMSi) (P<0.001), percentage of N3 sleep (P<0.001) and percentage of N1 sleep (P<0.001). These data show that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients.
- ItemSomente MetadadadosNREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation(Wiley-Blackwell, 2016) Fontes Silva, Giselle Melo [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Dos Santos, Diogo Fernandes [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Prado, Lucila Bizari Fernandes Do [UNIFESP]; Carvalho, Luciane Bizari Coin De [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Do Prado, Gilmar Fernandes [UNIFESP]Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)MJD/SCA3is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnography. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P<0.001), parasomnia complaints (confusional arousal/sleep terrors, P=0.001; RBD, P<0.001; and nightmares, P<0.001), REM sleep without atonia (P<0.001), periodic limb movements of sleep index (PLMSi) (P<0.001), percentage of N3 sleep (P<0.001) and percentage of N1 sleep (P<0.001). These data show that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients.
- ItemSomente MetadadadosPattern of Peripheral Nerve Involvement in Machado-Joseph Disease: Neuronopathy or Distal Axonopathy? A Clinical and Neurophysiological Evaluation(Karger, 2013-01-01) Escorcio Bezerra, Marcio Luiz [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Pinheiro, Denise Spinola [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Oliveira Braga, Nadia Iandoli de [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Objective: Neuropathy is a well-recognized feature in spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD), but the pattern of neuropathy is still a matter of debate. This study aimed to evaluate peripheral nerve involvement in MJD patients. Neurophysiological and clinical data were analyzed to distinguish neuronopathy from length-dependent distal axonopathy. Methods: in the present study we evaluated 26 patients with clinical and molecular-proven MJD and investigated their peripheral nerve involvement. Neurophysiological and clinical data were compared and correlated aiming to distinguish neuronopathy from distal axonopathy. Results: the neurophysiological evaluation showed that 42.3% of the patients had polyneuropathy. Among these patients, 81.8% presented neuronopathy. Conclusion: We concluded that neuronopathy is the most common form of peripheral nerve involvement in MJD patients. Copyright (C) 2012 S. Karger AG, Basel
- ItemSomente MetadadadosPsychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome(Springer, 2016) Braga-Neto, Pedro [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Gadelha, Ary [UNIFESP]; Laureano, Maura Regina [UNIFESP]; Noto, Cristiano de Souza [UNIFESP]; Garrido, Griselda Jara; Povoas Barsottini, Orlando Graziani [UNIFESP]Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide with a broad range of clinical manifestations, but psychotic symptoms were not previously characterized. We investigated the psychiatric manifestations of a large cohort of Brazilian patients with MJD in an attempt to characterize the presence of psychotic symptoms. We evaluated 112 patients with clinical and molecular diagnosis of MJD from February 2008 to November 2013. Patients with psychotic symptoms were referred to psychiatric evaluation and brain perfusion single-photon emission computed tomography (SPECT) analysis. A specific scale-Positive and Negative Syndrome Scale (PANSS)-was used to characterize psychotic symptoms in MJD patients. We also performed an autopsy from one of the patients with MJD and psychotic symptoms. Five patients presented psychotic symptoms. Patients with psychotic symptoms were older and had a late onset of the disease (p<0.05). SPECT results showed that MJD patients had significant regional cerebral blood flow (rCBF) decrease in the cerebellum bilaterally and vermis compared with healthy subjects. No significant rCBF differences were found in patients without psychotic symptoms compared to patients with psychotic symptoms. The pathological description of a patient with MJD and psychotic symptoms revealed severe loss of neuron bodies in the dentate nucleus and substantia nigra. MJD patients with a late onset of the disease and older ones are at risk to develop psychotic symptoms during the disease progression. These clinical findings may be markers for an underlying cortical-cerebellar disconnection or degeneration of specific cortical and subcortical regions that may characterize the cerebellar cognitive affective syndrome.
- ItemSomente MetadadadosSeverity of restless legs syndrome is inversely correlated with echogenicity of the substantia nigra in different neurodegenerative movement disorders. A preliminary observation(Elsevier B.V., 2012-08-15) Pedroso, Jose Luiz [UNIFESP]; Bor-Seng-Shu, Edson; Felicio, Andre C. [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Dutra, Livia A. [UNIFESP]; Aquino, Camila C. de [UNIFESP]; Ferraz, Henrique B. [UNIFESP]; Prado, Gilmar F. do [UNIFESP]; Teixeira, Manoel J.; Barsottini, Orlando G. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); HIAEObjective: Hyperechogenicity of the substantia nigra is a frequent observation on transcranial sonography in Parkinson's disease and Machado-Joseph disease patients. Additionally, restless legs syndrome is a sleep disorder that is also frequently found in both diseases. Autopsy studies have demonstrated increased SN iron content in hyperechogenic substantia nigra. Iron storage is also known to be involved in restless legs syndrome. We formally compared echogenicity of the substantia nigra with restless legs syndrome in Parkinson's disease and Machado-Joseph disease patients.Methods: Transcranial brain sonography was performed in a sample of Parkinson's disease and Machado-Joseph disease patients, and findings then correlated with the presence and severity of restless legs syndrome.Results: There was a continuum of substantia nigra echogenicity among groups (Parkinson's disease versus Machado-Joseph disease versus controls) and sub-groups (Parkinson's disease with and without restless legs syndrome versus Machado-Joseph disease with and without restless legs syndrome) as well as a statistically significant negative correlation between restless legs syndrome severity and substantia nigra echogenicity (p<0.001).Conclusions: These preliminary observations demonstrate that the severity of RLS may be influenced by nigral iron load reflected by substantia nigra echogenicity in different neurodegenerative movement disorders. (C) 2012 Elsevier B.V. All rights reserved.
- ItemSomente MetadadadosSleep disorders in Machado-Joseph disease(Lippincott Williams & Wilkins, 2016) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro; Martinez, Alberto R. M.; Martins Junior, Carlos R.; Rezende Filho, Flavio Moura [UNIFESP]; Sobreira-Neto, Manoel A.; Prado, Lucila Bizari Fernandes do [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Franca Junior, Marcondes C.; Barsottini, Orlando Graziani Povoas [UNIFESP]Purpose of reviewThis article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Recent findingsPathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum. Nonmotor manifestations are frequent and may include pain, cramps, dysautonomia, cognitive deficits, psychiatric manifestations, olfactory deficits, fatigue, nutritional issues, and sleep disorders.SummarySleep disorders are frequent in MJD, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, sleep apnea, periodic limb movements during sleep, parasomnia, and others. Pathophysiological mechanisms related to sleep disorders in Machado-Joseph are complex and poorly understood. Considering that sleep complaints are a treatable condition, recognizing sleep disorders in MJD is relevant.
- ItemSomente MetadadadosSleep disorders in Machado-Joseph disease: A dopamine transporter imaging study(Elsevier B.V., 2013-01-15) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Felicio, Andre C. [UNIFESP]; Minett, Thais [UNIFESP]; Yamaguchi, Elton [UNIFESP]; Prado, Lucila Bizari Fernandes do [UNIFESP]; Carvalho, Luciane Bizari C. [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Hoexter, Marcelo Queiroz [UNIFESP]; Rocha, Antonio Jose da; Bressan, Rodrigo A. [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Santa Casa de Misericordia São PauloObjectives: Sleep disorders, especially restless legs syndrome (RLS) and rapid eye movement sleep behavior disorder (RBD), are common in spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD), and a possible underlying dopaminergic dysfunction is implicated. This study assessed the relationship between sleep disorders in MJD and dopamine transporter (DAT) densities.Patients and methods: Twenty-two patients with MJD and twenty healthy subjects were enrolled in this study. MJD patients underwent clinical sleep evaluation and polysomnography. SPED' with [Tc-99m]-TRODAT-1, was performed in all subjects.Results: DAT densities were significantly reduced in MJD group when compared to controls. No significant correlation was found between DAT densities and RLS or RBD in MJD.Conclusion: Our study failed to demonstrate a clear correlation between sleep disorders and DAT densities in MJD patients, hence suggesting that extrastriatal and non-presynaptic dopamine pathways could be implicated in MJD-related sleep disorders. (C) 2012 Elsevier B.V. All rights reserved.
- ItemSomente MetadadadosSleep Disorders in Machado-Joseph Disease: Frequency, Discriminative Thresholds, Predictive Values, and Correlation with Ataxia-Related Motor and Non-Motor Features(Springer, 2011-06-01) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Felicio, Andre Carvalho [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Santos, William A. C. [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Sleep disorders are common complaints in patients with neurodegenerative diseases such as spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD)-SCA3/MJD. We evaluated the frequency of sleep disorders in SCA3/MJD patients against controls matched by age and gender, and correlated data with demographic and clinical variables. the main sleep disorders evaluated were rapid eye movement (REM) sleep behavior disorder (RBD), restless leg syndrome (RLS), and excessive daytime sleepiness (EDS). We recruited 40 patients with clinical and molecular-proven SCA3/MJD and 38 controls. We used the following clinical scales to evaluate our primary outcome measures: RBD Screening Questionnaire, International RLS Rating Scale, and Epworth Sleepiness Scale. To evaluate ataxia-related motor and non-motor features, we applied the International Cooperative Ataxia Rating Scale, the Scale for the Assessment and Rating of Ataxia, and the Unified Parkinson's Disease Rating Scale part III. Psychiatric manifestations were tested with the Hamilton Anxiety Scale, and Beck Depression Inventory. the frequency of RBD and RLS were significantly higher in the SCA3/MJD group than in the control group (p < 0.001). There was no difference between both groups with regard to EDS. the accuracy of RDBSQ to discriminate between cases and controls was considered the best area under the ROC curve (0.86). Within-SCA3/MJD group analysis showed that anxiety and depression were significantly correlated with RDB, but not with RLS. Additionally, depression was considered the best predictive clinical feature for RDB and EDS.
- ItemSomente MetadadadosSubstantia nigra echogenicity is correlated with nigrostriatal impairment in Machado-Joseph disease(Elsevier B.V., 2013-08-01) Pedroso, Jose Luiz [UNIFESP]; Bor-Seng-Shu, Edson; Felicio, Andre C. [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Hoexter, Marcelo Q. [UNIFESP]; Teixeira, Manoel Jacobsen; Bressan, Rodrigo A. [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)Background: Several studies have demonstrated increased substantia nigra (SN) echogenicity in Parkinson's disease (PD) and Machado-Joseph disease (MJD). Pathological substrate of PD is characterized by dopaminergic nigrostriatal cell loss, also found in MJD. Also, SN hyperechogenicity might be associated with nigrostriatal dysfunction in PD, when comparing dopamine transporter binding with SN echogenicity. the present study aimed to correlate the SN echogenic size and striatal dopamine transporter density in MJD patients.Methods: We performed TCS in 30 subjects and SPEC T with [Tc-99m]-TRODAT-1 in 18 subjects with MJD. Fifteen healthy subjects matched for age and gender formed a control group. TCS and [Tc-99m]-TRODAT-1 SPECT findings from both MJD patients and control subjects were compared.Results: There were no differences regarding age (p = 0358) or gender (p = 0.566) between groups (MJD versus control group). Mean DAT binding potentials and SN echogenicity were significantly different between groups. There was a significant negative correlation with regard to the SN echogenic size and the ipsilateral striatal TRODAT-1 uptake: the higher the SN echogenicity, the lower the DAT uptake in the ipsilateral cerebral hemisphere.Conclusion: Increase in SN echogenic size likely correlates with presynaptic dopaminergic nigrostriatal dysfunction in MJD, suggesting a concurrent in vivo pathophysiological mechanism. (c) 2013 Elsevier B.V. All rights reserved.