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1.
Neurodegener Dis ; 8(6): 491-5, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21659726

RESUMO

BACKGROUND: Some authors have recently reported that the CC genotype of single-nucleotide polymorphism (SNP) rs1541160 mapping within the kinesin-associated protein 3 (KIFAP3) gene is associated with increased survival in sporadic amyotrophic lateral sclerosis (sALS). OBJECTIVE AND METHODS: The relationship between the rs1541160 genotype and several clinical features of 228 ALS patients was evaluated with the intent of assessing any association between the ALS phenotype and KIFAP3. The SNP rs1541160 within the KIFAP3 expression profile was investigated using real-time PCR in a group of 6 patients harboring the CC genotype and in 12 patients harboring the TT genotype. RESULTS: Analysis of our patients' clinical features showed that almost half of those with the CC genotype were classified as having upper motor neuron-predominant ALS (UMN-ALS). Conversely, there was an approximately 10% frequency of UMN-ALS in both the TT and the TC patient groups as well as in the entire cohort considered as a whole (p < 0.005). The SNP rs1541160 genotype did not appear to have any effect on patient survival or on KIFAP3 expression. CONCLUSIONS: The incidence of the UMN-ALS phenotype in the CC patients of this cohort supports the hypothesis that the SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/patologia , Proteínas do Citoesqueleto/genética , Neurônios Motores/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , DNA/genética , Feminino , Expressão Gênica/genética , Expressão Gênica/fisiologia , Variação Genética , Genótipo , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sobrevida , Adulto Jovem
2.
Eur J Neurol ; 16(8): 920-4, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19473365

RESUMO

BACKGROUND AND PURPOSE: Several studies have reported an increase in ALS incidence in recent years but population-based studies in Europe do not confirm this trend. To analyze ALS incidence over time we conducted a retrospective incidence study in the Padova district of Italy (1992 to 2005). We had previously conducted a survey in the same area in the years 1980-1991. METHODS: We used the archives of all the neurological wards of the Padova district to identify all subjects with a discharge diagnosis of ALS or motor neuron disease and resident in the Padova district. RESULTS: We ascertained 182 patients (85 males and 97 females; male:female ratio 0.88:1) over the 14-year study period. The annual incidence rates adjusted by sex and age increased from 1.31/100,000/year in the years 1992-1994 to 1.92/100,000/year in the years 2004-2005. CONCLUSIONS: This study confirmed an ALS incidence increase over the last 25 years in the Padova district. The increase in incidence may be partially explained by the ageing of the general population rather than by an improved diagnostic assessment.


Assuntos
Esclerose Lateral Amiotrófica/epidemiologia , Doença dos Neurônios Motores/epidemiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Paralisia Bulbar Progressiva/epidemiologia , Estudos de Coortes , Feminino , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Atrofia Muscular Espinal/epidemiologia , Fatores Sexuais
3.
J Neurol ; 257(12): 1970-8, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20593194

RESUMO

Emotional processing may be abnormal in amyotrophic lateral sclerosis (ALS). Our aim was to explore functional anatomical correlates in the processing of aversive information in ALS patients. We examined the performance of nine non-demented ALS patients and 10 healthy controls on two functional MRI (fMRI) tasks, consisting of an emotional attribution task and a memory recognition task of unpleasant versus neutral stimuli. During the emotional decision task, subjects were asked to select one of three unpleasant or neutral words. During the memory task, subjects were asked to recognize words presented during the previous task. Controls showed, as expected, greater activation in the right middle frontal gyrus during selection of unpleasant than neutral words, and a greater activation mainly in right-sided cerebral areas during the emotional recognition task. Conversely, patients showed a general increase in activation of the left hemisphere, and reduced activation in right hemisphere in both emotional tasks. Such findings may suggest extra-motor neurodegeneration involving key circuits of emotions, mostly negative, commonly involved in FTD.


Assuntos
Esclerose Lateral Amiotrófica/complicações , Cérebro/fisiopatologia , Emoções/fisiologia , Lateralidade Funcional/fisiologia , Transtornos do Humor/etiologia , Transtornos do Humor/fisiopatologia , Adulto , Esclerose Lateral Amiotrófica/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos do Humor/diagnóstico
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