P1‐134: Neurobehavioral characterization of adult‐onset alexander's disease: A family study
Notice bibliographique
Résumé
Differentiating neurodegenerative disorders with prominent frontal impairment can be challenging. Alexander's disease is a clinically heterogenous condition associated with GFAP gene mutations that cause dysfunction of intermediate filaments, astrocytes, and neurons. In the adult-onset form of Alexander's disease (AoAD), there is brainstem degeneration with characteristic MRI features. The neurobehavioral changes in AoAD have not yet been clearly delineated. We present the neurobehavioral features of three siblings with suspected AoAD from a kindred with three affected generations. Descriptive clinical phenotypic study of a family with AoAD. An initial index case was identified, followed by neurobehavioral assessment of three siblings and family history documentation. Each of the affected siblings had MRI evidence of significant brainstem and cervical cord atrophy, consistent with AoAD. Sibling 1 (male, 58) presented with progressive ataxia and nystagmus at 47. Described changes in his behavior included withdrawal and apathy. He had predominant frontal executive dysfunction: impairment of set-shifting and mental flexibility; perseveration; flat affect; and anosagnosia. Other findings included verbal memory difficulties partially improved with cuing and ideomotor apraxia. He met diagnostic criteria for mild cognitive impairment (MCI) associated with AoAD. Sibling 2 (male, 53) presented with prominent mood and personality disturbances in his early 40s affecting his social and work function; his initial diagnosis was depression. He had primarily frontal dysfunction: impairments in concept formation and set-shifting; perseveration; abstraction; apathy; flat affect; and anosagnosia. Additionally, he had deficits in visual and verbal memory and temporal orientation, meeting criteria for dementia due to AoAD. Sibling 3 (female, 51) presented with mild ataxia at age 49, without behavioral complaints. She was noted on assessment to have inefficiency in working memory, attention, and memory retrieval, meeting criteria for MCI due to AoAD. We characterized AoAD in this family as including both cognitive impairment with frontal dysexecutive features, as well as significant early behavioral changes with frontal features, in the context of brainstem symptoms, including ataxia. The presenting neurobehavioral features raise consideration of frontotemporal dementia. Awareness of the phenotypic features of AoAD allows for more timely diagnoses, care, and genetic counseling for affected individuals and family members.
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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 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| 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 ».