Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genesOrlando G P Barsottini
Instituto Israelita de Ensino e Pesquisa, Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 67:7-11. 2009
..To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes...
- Differentiation of Parkinson's disease and progressive supranuclear palsy with magnetic resonance imaging: the first Brazilian experience
Orlando G P Barsottini
Department of Neurology, Universidade Federal de Sao Paulo, Rua Cabedelo, 265 São Paulo, SP, Brazil
Parkinsonism Relat Disord 13:389-93. 2007
..The objective of this study is to differentiate PSP from Parkinson's disease through magnetic resonance imaging...
- Progressive supranuclear palsy: new concepts
Orlando Graziani Povoas Barsottini
Department of Neurology and Neurosurgery, Federal University of Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 68:938-46. 2010
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Cognitive and olfactory deficits in Machado-Joseph disease: a dopamine transporter studyPedro Braga-Neto
Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
Parkinsonism Relat Disord 18:854-8. 2012
..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...
- Cognitive impairment in Brazilian patients with Behçet's disease occurs independently of neurologic manifestation
Livia Almeida Dutra
Department of Neurology and Neurosurgery, Division of General Neurology, Universidade Federal de Sao Paulo, Brazil
J Neurol Sci 327:1-5. 2013
..Nonetheless, there are reports of cognitive impairment in patients without neurological manifestations...
- Atypical manifestations in Brazilian patients with neuro-Behçet's disease
Livia Almeida Dutra
General Neurology Division, Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, R Pedro de Toledo, 650 Vila Clementino, São Paulo 04039 002, Brazil
J Neurol 259:1159-65. 2012
..Brazilian NBD patients present more parenchymal and atypical manifestations, and relapse more often than NBD patients from other populations...
- Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features
Pedro Braga-Neto
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, 650 Pedro de Toledo St, Vila Clementino, Sao Paulo, SP, Brazil
Cerebellum 11:549-56. 2012
..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...
- Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas
Pedro Braga-Neto
Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
Cerebellum 11:1037-44. 2012
..The visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease...
- Sleep disorders in Machado-Joseph disease: a dopamine transporter imaging study
Jose Luiz Pedroso
Department of Neurology, Ataxia Unit, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
J Neurol Sci 324:90-3. 2013
..This study assessed the relationship between sleep disorders in MJD and dopamine transporter (DAT) densities...
- Neurosarcoidosis: guidance for the general neurologist
Livia Almeida Dutra
Division of General Neurology, Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Brazil
Arq Neuropsiquiatr 70:293-9. 2012
..We revised pathophysiology, clinical manifestations, diagnostic work up, and treatment of NS as guidance for the general neurologist...
- Is neuropathy involved with restless legs syndrome in Machado-Joseph disease?
Jose Luiz Pedroso
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
Eur Neurol 66:200-3. 2011
..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)...
- Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features
Jose Luiz Pedroso
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Rua Botucatu, 740, 04 023 900, Sao Paulo, Sao Paulo, Brazil
Cerebellum 10:291-5. 2011
..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...
- PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients
Clecio Godeiro-Junior
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, SP, Brazil
Mov Disord 24:1693-6. 2009
..The results of our study support the hypothesis that mutations in PINK1 may not be a relevant cause of EOPD. In Brazil, if we consider only EOPD patients, it seems that parkin and LRRK2 mutations are more common...
- Evaluation of patients with Clinically Unclear Parkinsonian Syndromes submitted to brain SPECT imaging using the technetium-99m labeled tracer TRODAT-1
Andre C Felicio
Department of Neurology and Neurosurgery, Movement Disorder Unit, Federal University of Sao Paulo, Sao Paulo, Brazil
J Neurol Sci 291:64-8. 2010
..In conclusion, our data provided further information about the role of the technetium-99m labeled tracer TRODAT-1 as a biomarker of DAT reduction that can also be used in the diagnosis of patients with CUPS...
- Familial Behr syndrome-like phenotype with autosomal dominant inheritance
Andre C Felicio
Department of Neurology and Neurosurgery, Federal University of Sao Paulo, Sao Paulo, Brazil
Parkinsonism Relat Disord 14:370-2. 2008
..Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features...
- Sneddon's syndrome: case report and review of its relationship with antiphospholipid syndrome
Livia Almeida Dutra
Departament of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
Einstein (Sao Paulo) 10:230-2. 2012
..It is important to recognize the Sneddon's syndrome, particularly because stroke episodes may be prevented through appropriate treatment...
- Epilepsy and Behçet's disease: cortical and hippocampal involvement in Brazilian patients
Livia Almeida Dutra
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo UNIFESP, Escola Paulista de Medicina, Brazil
J Neurol Sci 309:1-4. 2011
..To describe clinical, radiological and electrophysiological findings in epileptic neuro-Behçet's (NBD) patients...
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family
Jose Luiz Pedroso
Department of Neurology and Neurosurgery, Division of General Neurology and Ataxias, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 69:288-91. 2011
..Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS...
- Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
Jose Luiz Pedroso
Department of Neurology, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 70:630-2. 2012
..Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease...
- Transcranial sonography in Parkinson's disease
Edson Bor-Seng-Shu
Division of Clinical Neurosurgery, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Einstein (Sao Paulo) 10:242-6. 2012
..This study discussed how the hyperechogenicity of the substantia nigra may facilitate the differential diagnosis of parkinsonian syndromes...
Gradenigo's Syndrome: Beyond the Classical Triad of Diplopia, Facial Pain and OtorrheaJose Luiz Pedroso
Departments of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
Case Rep Neurol 3:45-7. 2011
..Careful clinical history and physical examination, including neuroimaging, are necessary to make a differential diagnosis...
- Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)
Pedro Braga-Neto
Department of Neurology and Neurosurgery, Escola Paulista de Medicina, Federal University of Sao Paulo, Sao Paulo, SP, Brazil
Arq Neuropsiquiatr 68:228-30. 2010
..The objective of this study was to translate and validate SARA into Brazilian Portuguese...
- PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease
Clecio Godeiro
Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo SP, Brazil
Neurosci Lett 469:155-8. 2010
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- Clinical features of dystonia in atypical parkinsonism
Clecio Godeiro-Junior
Movement Disorders Unit, Department of Neurology and Neurosurgery, Federal University of Sao Paulo, Sao Paulo SP, Brazil
Arq Neuropsiquiatr 66:800-4. 2008
..The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism...
