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1.
Clin Genet ; 78(2): 169-74, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20095980

RESUMO

Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular age as a function of a specific CAG repeat size, we have analyzed a large group of 924 individuals, including 394 presymptomatic and 530 affected individuals with a CAG repeat length of 32-79 units. Using a Kaplan-Meier survival analysis, we obtained cumulative probability curves for disease manifestation at a particular age for each CAG repeat length in the 34-45 range. These curves were significantly different (p < 0.001) and showed small overlap. All these information may be very valuable in predictive-testing programs, in the planning of studies for the identification of other genetic and environmental factors as modifiers of age at onset, and in the design of clinical trials for people at enlarged risk for SCA2.


Assuntos
Ataxias Espinocerebelares/epidemiologia , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Cuba/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ataxias Espinocerebelares/genética , Análise de Sobrevida , Expansão das Repetições de Trinucleotídeos/genética
2.
J Neurol Neurosurg Psychiatry ; 79(3): 315-7, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17951282

RESUMO

OBJECTIVE: To evaluate the significance of antigliadin antibodies (AGA) levels for spinocerebellar ataxia type 2. METHODS: We determined AGA levels in 64 patients with spinocerebellar ataxia type 2 and in 65 healthy matched controls. The clinical assessment was carried out using the International Cooperative Ataxia Rating Scale and CAG repeat number was assessed by PCR. RESULTS: Antibodies were positive in 23.4% of the ataxia patients and 9.09% of the controls. Statistical comparison using chi2 test with Yates's correction reveals significant differences between these two groups (chi2 = 3.94; p = 0.047). The same was obtained for strongly positive AGA (chi2 = 4.62; p = 0.032). There were no significant differences between AGA positive and AGA negative patients in age at onset, disease duration, ataxia score or CAG repeat number, neither in the prevalence of gastrointestinal symptoms, prevalence of wheat intolerance or body weight. CONCLUSIONS: These results demonstrate an association between antigliadin antibodies serum levels and SCA2. However, more work has to be done to clarify the clinical consequences of such an association.


Assuntos
Anticorpos/sangue , Gliadina/imunologia , Ataxias Espinocerebelares/imunologia , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Cuba , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência
3.
J Neurol Neurosurg Psychiatry ; 79: 1-4, 2008. graf, tab
Artigo em Inglês | CUMED | ID: cum-42352

RESUMO

Antibodies were positive in 23.4 percent of the ataxiapatients and 9.09 percent of the controls. Statistical comparisonusing x2 test with Yatess correction reveals significantdifferences between these two groups (x2=3.94; p=0.047). The same was obtained for strongly positiveAGA (x2=4.62; p=0.032). There were no significant differences between AGA positive and AGA negativepatients in age at onset, disease duration, ataxia score orCAG repeat number, neither in the prevalence of gastrointestinal symptoms, prevalence of wheat intolerance or body weight. These results demonstrate anassociation between antigliadin antibodies serum levels and SCA2. However, more work has to be done to clarify the clinical consequences of such an association...(AU)


Assuntos
Humanos , Síndromes Neurotóxicas , Glutens/toxicidade , Gliadina , Ataxias Espinocerebelares
4.
Rev Neurol ; 25(145): 1393-8, 1997 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-9377297

RESUMO

INTRODUCTION: Coherence is a quantitative measurement used to express the degree of functional connection between two or more cerebral regions. MATERIAL AND METHODS: We studied 27 patients with Alzheimer's disease (EA), diagnosed according to the criteria of the NINCDS-ADRDA group. Inter and intrahemispheric cerebral coherence was analyzed to evaluate its usefulness for differentiation between different patient sub-groups, according to the GDS and MMSE scales, age and length of illness. The sample was divided into various subgroups. RESULTS AND CONCLUSIONS: We found low values of coherence between the frontal regions as compared with mediotemporal and mediocentral regions of both hemispheres, being most marked on the left side. Equally, there were inter-hemisphere differences, although these were less significant than the intra-hemisphere differences. The intra-regional coherencies showed high values in all the groups studied. This may be explained by the relative conservation of short cortico-cortical association fibres which have been found in neuropathological studies in patients with EA. The factors of frequency, region and hemisphere show a marked effect in relation to coherence values, showing higher significance values for the slower theta and delta bands of the frontal regions compared with the temporal and central regions of the left hemisphere. An analysis of tendencies shows that there are low levels of correlation between the subgroups formed by the GDS and MMSE scales for the different frequencies analyzed and the regions studied, with those patients of the most deteriorated subgroups showing a lower grade of correlation.


Assuntos
Doença de Alzheimer/fisiopatologia , Encéfalo/fisiopatologia , Idoso , Mapeamento Encefálico , Eletroencefalografia/métodos , Feminino , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade
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