Navegando por Palavras-chave "Spinocerebellar ataxia"
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- 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 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 MetadadadosShould spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?(Elsevier B.V., 2014-12-15) Pedroso, Jose Luiz [UNIFESP]; Thomaz de Freitas, Maria Eliza [UNIFESP]; Cristino Albuquerque, Marcus Vinicius [UNIFESP]; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G. P. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hosp Clin Porto AlegreIn this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs at least. SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report. (C) 2014 Elsevier B.V. All rights reserved.