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Chorea-Acanthocytosis: From Motor to Behavioral and Olfactory Profiles
Published online by Cambridge University Press: 24 June 2026
Abstract
Background:
Chorea-acanthocytosis (ChA) clinically presents with motor and non-motor symptoms. Some features of the disease and their intercorrelations have remained insufficiently characterized. Thus, we aimed to perform a multidimensional assessment of ChA patients, focusing on motor, behavioral, cognitive and olfactory domains.
Methods:
A cross-sectional clinical assessment of 23 genetically confirmed ChA patients was conducted from 2022 to 2024. Patients were evaluated using the Unified Huntington’s Disease Rating Scale (UHDRS) and Mini-Mental State Examination. A case–control comparison of olfactory function was also performed between eligible patients (n = 20) and age-and gender-matched controls (n = 20) using the Sniffin’ Sticks test.
Results:
The mean age and disease duration were 38.57 ± 7.26 years and 7.86 ± 6.04 years, respectively. Chorea (91.3%), dystonia (82.6%) and oculomotor abnormalities (78.3%), particularly impaired vertical saccades and smooth pursuit, were frequent. All patients exhibited at least one behavioral disorder, most commonly anxiety, mood disorders (including sad mood and low self-esteem) and obsessive-compulsive features. Suicidal thoughts were found in 21.7% of the patients. Among patients with preserved cognition, 50% demonstrated hyposmia (sum of odor identification, discrimination and threshold scores [TDI] < 30.75), with significantly reduced odor discrimination, identification and TDI scores versus controls. Disease duration was negatively associated with olfactory function. Higher UHDRS motor scores were associated with poorer olfactory, cognitive and functional outcomes.
Conclusion:
These findings demonstrated the varied manifestations of ChA, identifying olfactory impairment as a prevalent, underrecognized non-motor symptom, with potential implications for clinical evaluation and management. Further multicenter studies with larger cohorts are required to confirm these observations and clarify their prognostic value.
Résumé
La choréo-acanthocytose : des troubles moteurs et du comportement aux troubles olfactifs.
Les manifestations cliniques de la choréo-acanthocytose (ChAc) comprennent des symptômes moteurs et non moteurs. Toutefois, certains éléments de la maladie et leurs intercorrélations ne sont pas suffisamment caractérisés. Aussi l’équipe visait-elle à procéder à une évaluation pluridimensionnelle de patients atteints de la ChAc, en mettant l’accès sur les domaines moteur, comportemental, cognitif et olfactif.
L’étude consistait en une évaluation clinique transversale de 23 patients chez qui un diagnostic génétique de ChAc avait été posé. Les évaluations, effectuées de 2022 à 2024, ont été réalisées à l’aide de l’échelle Unified Huntington’s Disease Rating Scale (UHDRS) et du mini-examen de l’état mental. Une comparaison de type cas-témoins du fonctionnement olfactif a aussi été réalisée entre les patients admissibles (n = 20) et des témoins appariés selon l’âge et le sexe (n = 20), au moyen du test Sniffin Sticks.
L’âge des patients et la durée de la maladie s’élevaient en moyenne à 38,57 ± 7,26 ans et à 7,86 ± 6,04 ans, respectivement. Il n’était pas rare d’observer des signes tels que la chorée (91,3 %), la dystonie (82,6 %) et des troubles oculomoteurs (78,3 %), notamment des anomalies des saccades verticales et des mouvements conduits fluides. Les patients présentaient tous au moins un trouble de comportement, le plus souvent de l’anxiété, des troubles de l’humeur (dont de la tristesse ou une faible estime de soi) ou des signes obsessionnels-compulsifs. Dans l’ensemble, 21,7 % des patients avaient des pensées suicidaires. Par ailleurs, 50 % des malades ayant conservé une bonne cognition souffraient d’hyposmie (TDI < 30,75), et les résultats relatifs à la discrimination et à l’identification des odeurs ainsi que les scores TDI globaux étaient significativement plus faibles que ceux obtenus chez les témoins. Une association négative a été établie entre la durée de la maladie et le fonctionnement olfactif. Enfin, des scores moteurs élevés sur l’échelle UHDRS ont été associés à des résultats olfactifs, cognitifs et fonctionnels moindres.
Ces constatations font ressortir les différentes manifestations de la ChAc, notamment les troubles olfactifs considérés comme un symptôme non moteur, fréquent et peu reconnu, qui peuvent jeter un éclairage nouveau sur les évaluations et la prise en charge cliniques de la maladie. Il faudrait donc poursuivre la recherche par des études multicentriques, composées de cohortes importantes afin de confirmer les observations relevées et clarifier leur valeur pronostique.
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Chorea-Acanthocytosis: From Motor to Behavioral and Olfactory Profiles
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