Management of Neuroacanthocytosis Syndromes

Abstract

Background: The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-bycase basis, with very few practitioners seeing more than a single case in their careers. Methods: A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results: There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion: Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington's disease (HD) and Parkinson's disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders.

Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

“…They are all absent in 1000G, gnomAD and our NGS database containing 500 Chinese matched controls. According to American College of Medical Genetics and Genomics (ACMG) standards [17], c.942G>A is classi ed as pathogenic and the other two variants c.970A>T and c.422_423del are classi ed as likely pathogenic (Table 1).…”

Epilepsie révélant une chorée-acanthocytose: à propos d’un cas

“…La présence d’acanthocytes peut être observée également en cas de malabsorption des lipides, de cirrhose alcoolique, des dysthyroïdies, d’anorexie mentale et chez les splénectomisés, ce qui n’est pas le cas de notre patient. L’expérience avec les thérapies pour la ChAc est limitée par la rareté de cette maladie avec seulement quelques praticiens rencontrant plus d’un cas durant leur vie professionnelle [ 15 ]. La littérature est ainsi limitée à des cas cliniques ou à de petites séries de cas.…”

“…L´halopéridol est le médicament de choix pour s’attaquer aux mouvements choréiques. Enfin en règle générale les patients avec ChAc sont de mauvais candidat à la chirurgie de l’épilepsie [ 15 ].…”

Pallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis

“…Focal botulinum toxin injection is one treatment modality for the typical orofacial dystonia of ChAc patients, but cautions should be taken while conducting the injection procedure considering the risk of suppression of other adjacent muscles associated with swallowing. Tetrabenazine, a compound that inhibits the synthesis and promotes the consumption of dopamine, has been reported to be effective in treating tongue protrusion in ChAc patients , but may exacerbate dysphagia . Chorea and dystonia affecting the trunk and limb can be treated with classic anti‐dystonia medications, including anticholinergics, benzodiazepines, and baclofen .…”

“…Tetrabenazine, a compound that inhibits the synthesis and promotes the consumption of dopamine, has been reported to be effective in treating tongue protrusion in ChAc patients , but may exacerbate dysphagia . Chorea and dystonia affecting the trunk and limb can be treated with classic anti‐dystonia medications, including anticholinergics, benzodiazepines, and baclofen .…”