Clinical and genetic aspects, cognitive evaluation and neuroimage in patients with autosomal recessive ataxia related to the SYNE1 gene
Notice bibliographique
Résumé
BACKGROUND: Cerebellar ataxias are a heterogenous group of diseases that can affect individuals of all ages and are characterized by degeneration of the cerebellum and cerebellar pathways. The most common genetic forms of ataxias are those caused by abnormal expansion of trinucleotides, whose genetic tests are already widely used. With the advancement of diagnostic techniques, many genes could be identified as causing undetermined ataxias, as the case of ataxia related to the mutation of the SYNE1 gene, wich was first described in 2007 in a Canadian population. OBJECTIVES: In order to adress different objectives this clinical protocol is divided into sub-studies as follows: Study 1– to asses clinically and genetically diagnosed patients with ataxia related to SYNE1 in the Brazilian population.Study 2– to perform a neuropsychological and psychiatric analysis in these patients. Study 3– to perform multimodal neuroimaging analyses and investigate cerebelar and potential extra-cerebellar changes in SYNE1 ataxia. METHODOLOGY: Patients aged 10 to 40 years with cerebellar ataxia and retained reflexes were selected. The clinical protocol consisted of: clinical evaluation, ataxia scales (ICARS e SARA), molecular test, neuropsychological and specific psychiatric analyses and multimodal neuroimaging protocol. Specific statistical analysis is described in each study separately. RESULTS: Study 1: it was found a frequency of 10.25% of the disease in this sample of patients and the clinical phenotype varied from the classical cerebellar form to the complex forms, wich has association with motor neuron disease. Study 2 - the following domains of cognition were altered: executive function, attention and processing speed. In psychiatric analyses, a mild degree of anxiety and difficulty in the abstraction of thought was observed. Study 3 – it was found a cerebellar involvement (cortical atrophy and alteration of the white matter), reduction of cortical thickness in the primary motor area and pre-motor area and degeneration of the cortico-spinal tract in the motor cortex, internal capsule and cerebral peduncle, similar findings to those found in motor neuron disease. CONCLUSION: This study was the first to demonstrate the frequency of cerebellar ataxia related to the mutation of the SYNE1 gene in the Brazilian population. The phenotypic variability was confirmed, as was described in other international studies. Some cognitive domains were involved, wich corroborates the role of the cerebellum in cognition. The neuroimaging findings were consistent with the clinical heterogeneity described.
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,000 | 0,001 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».