Navegando por Palavras-chave "SCA2"

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    Huntington disease and Huntington disease-like in a case series from Brazil
    (Wiley-Blackwell, 2014-10-01) Castilhos, R. M.; Souza, A. F. D.; Furtado, G. V.; Gheno, T. C.; Silva, A. L.; Vargas, F. R.; Lima, M. -A F. D.; Barsottini, O. [UNIFESP]; Pedroso, J. L. [UNIFESP]; Godeiro, C.; Salarini, D.; Pereira, E. T.; Lin, K.; Toralles, M. -B.; Saute, J. A. M.; Rieder, C. R.; Quintas, M.; Sequeiros, J.; Alonso, I.; Saraiva-Pereira, M. L.; Jardim, L. B.; Hosp Clin Porto Alegre; Univ Fed Rio Grande do Sul; Inst Nacl Genet Med Populac INAGEMP; Univ Fed Estado Rio de Janeiro; Universidade Federal de São Paulo (UNIFESP); Univ Fed Rio Grande do Norte; Santa Casa Misericordia São Paulo; Universidade Federal de Santa Catarina (UFSC); Universidade Federal da Bahia (UFBA); Univ Porto
    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. in HD, the median expanded (CAG)n (range) was 44 (40-81) units; R-2 between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.
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    NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2
    (Springer, 2017) Monte, Thais L.; Reckziegel, Estela R.; Augustin, Marina C.; Silva, Amanda S. P.; Locks-Coelho, Lucas D.; Barsottini, Orlando [UNIFESP]; Pedroso, Jose L. [UNIFESP]; Vargas, Fernando R.; Saraiva-Pereira, Maria-Luiza; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach
    Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological manifestations are required. This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be used in SCA2 and to compare its responsiveness to those obtained with other instruments. NESSCA, SARA, SCAFI, and CCFS scales were applied in symptomatic SCA2 patients. Correlations were done with age at onset, disease duration, CAGexp, and between scales. Responsiveness was estimated by comparing deltas of stable to worse patients after 12 months, according to Patient Global Impression of change, and the area under the curve (AUC) of the Receiver Operating Characteristics curve of scores range. Eighty-eight evaluations (49 patients) were obtained. NESSCA had an even distribution and correlated with disease duration (r = 0.55), SARA (r = 0.63), and CAGexp (rho = 0.32): both explained 44% of NESSCA variance. Deltas (95% CI) after 1 year in stable and worse patients were only significantly different for SARA. NESSCA, SARA, SCAFI, and CCFS AUC were 0.63, 0.81, 0.49, and 0.48, respectively. NESSCA is valid to be used in SCA2. However, the only instrument that presented good responsiveness to change in 1 year was SARA. We suggest that NESSCA can be used as a secondary outcome in future trials in SCA2 due to the burden of neurological disabilities related to disease progression.
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    Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors
    (Elsevier Sci Ltd, 2017) Monte, Thais Lampert; Pereira, Fernanda Santos; Reckziegel, Estela da Rosa; Augustin, Marina Coutinho; Locks-Coelho, Lucas Doridio; Santos, Amanda Senna P.; Pedroso, Jose Luiz [UNIFESP]; Barsottini, Orlando [UNIFESP]; Vargas, Fernando Regla; Saraiva-Pereira, Maria-Luiza; Jardim, Laura Bannach
    Background: Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2. SCA2 presents great clinical variability, alongside characteristic ataxia with saccadic slowness. Aims: To study parkinsonism, dementia, dystonia, and amyotrophy as subphenotypes of SCA2, and to explore the effect of CAG repeats at different loci and of mitochondrial polymorphism A10398G as modifiers of phenotype. Methods: Symptomatic subjects were classified by presence/absence of neurological signs mentioned above
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    Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2
    (Springer, 2017) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Escorcio-Bezerra, Marcio Luiz [UNIFESP]; Abrahao, Agessandro [UNIFESP]; Cristino de Albuquerque, Marcus Vinicius [UNIFESP]; Rezende Filho, Flavio Moura [UNIFESP]; Sgobbi de Souza, Paulo Victor [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Pereira Borges, Franklin Roberto, Jr.; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G. P. [UNIFESP]
    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. Pathological studies have demonstrated not only cerebellar and brainstem atrophy, but substantia nigra, motoneurons, basal ganglia, thalamus, and peripheral nerves involvement. These findings may explain non-motor and extra-cerebellar features in SCA2. We accessed the non-motor symptoms and extra-cerebellar signs in SCA2 patients in order to provide a better understanding on pathophysiological mechanisms and natural history of brain degeneration in the disease. Thirty-three SCA2 patients were evaluated and compared with 26 healthy subjects. We investigated the following variables: sleep disorders, cognitive deficit, olfactory impairment, urinary dysfunction, psychiatric symptoms, cramps, pain, movement disorders, and weight loss. SCA2 had a high frequency of REM sleep behavior disorder (48.48 %, N = 16) as well as excessive daytime sleepiness (42.42 %, N = 14). Chorea was present in 15.15 % (N = 5), dystonia in 27.27 % (N = 9), and parkinsonism in 27.27 % (N = 9). Slow saccadic pursuit was present in 87.87 % (N = 29) and ophtalmoparesis in 78.78 % (N = 26) of patients. Regarding sleep disorders, 18.18 % (N = 6) of patients had restless leg syndrome. Dysphagia was present in 39.39 % (N = 13), weight loss 24.24 % (N = 8), and urinary dysfunction 27.27 % (N = 9). Cramps was present in only 6 % of patients (N = 2). This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition.
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    Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment
    (Springer, 2016) Bezerra, Marcio Luiz Escorcio [UNIFESP]; Pedroso, José Luiz [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Abrahão, Agessandro [UNIFESP]; Albuquerque, Marcus Vinicius Cristino [UNIFESP]; Pereira Borges, Franklin Roberto, Jr.; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Braga, Nadia Iandoli de Oliveira [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]
    Peripheral neuropathy is frequent in spinocerebellar ataxia type 2 (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue. This study aimed to evaluate the prevalence, extent, and distribution of nerve involvement in SCA2 patients through neurophysiological studies. Thirty-one SCA2 patients and 20 control subjects were enrolled in this study. All subjects were prospectively evaluated through electromyography, including nerve conduction, needle electromyography in proximal and distal muscles of the upper and lower limbs, and sural radial amplitude ratio (SRAR). We aimed to differentiate distal axonopathy from diffuse nerve commitment, characterizing neuronopathy. Nerve involvement was observed in 83.6 % (26 individuals) of SCA2 patients. Among these, 19 had diffuse sensory abnormalities on nerve conduction predominantly on the upper limbs, with diffuse chronic denervation on needle electromyography and elevated SRAR values. Four individuals had only diffuse sensory involvement, and 2 had only motor involvement on needle evaluation and normal nerve conduction. These were interpreted as neuronopathy due to the diffuse distribution of the involvement. One individual had distal sensory axonopathy, with lower limb predominance. In this study, we found neuronopathy as the main pattern of nerve involvement in SCA2 patients and that motor involvement is a frequent feature. This information brings new insights into the understanding of the pathophysiology of nerve involvement in SCA2 and sets some key points about the phenotype, which is relevant to guide the genetic/molecular diagnosis.
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    Spinocerebellar Ataxias in Brazil-Frequencies and Modulating Effects of Related Genes
    (Springer, 2014-02-01) Castilhos, Raphael Machado de; Furtado, Gabriel Vasata; Gheno, Tailise Conte; Schaeffer, Paola; Russo, Aline; Barsottini, Orlando Graziani Povoas [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Salarini, Diego Z.; Vargas, Fernando Regla; Lima, Maria Angelica de Faria Domingues de; Godeiro Junior, Clecio de Oliveira; Santana-da-Silva, Luiz Carlos; Toralles, Maria Betânia Pereira; Santos, Silvana; Van der Linden, Helio; Wanderley, Hector Yuri; Medeiros, Paula Frassineti Vanconcelos de; Pereira, Eliana Ternes; Ribeiro, Erlane; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Rede Neurogenetica; Hosp Clin Porto Alegre; Universidade Federal de São Paulo (UNIFESP); Disciplina Neurol Santa Casa São Paulo; Univ Fed Estado Rio de Janeiro; Universidade Federal do Rio de Janeiro (UFRJ); Inst Nacl Canc; Univ Fed Rio Grande do Norte; Fed Univ Para; Universidade Federal da Bahia (UFBA); Univ Estadual Paraiba; Ctr Reabilitacao Dr Henrique Santillo; APAE Vitoria; Univ Fed Campina Grande; Universidade Federal de Santa Catarina (UFSC); Assoc Cearense Doencas Genet; Univ Fed Rio Grande do Sul; Inst Nacl Genet Med Populac INAGEMP
    This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at onset and on neurological findings. Patients with symptoms and family history compatible with a SCA were recruited in 11 cities of the country; clinical data and DNA samples were collected. Capillary electrophoresis was performed to detect CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17, and DRPLA associated genes, and a repeat primed PCR was used to detect ATTCT expansions at SCA10 gene. Five hundred forty-four patients (359 families) were included. There were 214 SCA3/MJD families (59.6 %), 28 SCA2 (7.8 %), 20 SCA7 (5.6 %), 15 SCA1 (4.2 %), 12 SCA10 (3.3 %), 5 SCA6 (1.4 %), and 65 families without a molecular diagnosis (18.1 %). Divergent rates of SCA3/MJD, SCA2, and SCA7 were seen in regions with different ethnic backgrounds. 64.7 % of our SCA10 patients presented seizures. Among SCA2 patients, longer ATXN3 CAG alleles were associated with earlier ages at onset (p<0.036, linear regression). A portrait of SCAs in Brazil was obtained, where variation in frequencies seemed to parallel ethnic differences. New potential interactions between some SCA-related genes were presented.