Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional outcomes.

Background: ChAc is an autosomal recessive neurodegenerative disease due to mutations in VPS13A gene, which encodes for the chorein protein. It belongs to the neuroacanthocytosis (NA) group, defined by basal ganglia degeneration and the presence of acanthocytes in peripheral blood smear. Its estimated prevalence is around 1000 cases worldwide with limited evidence regarding treatments.

Methods: Retrospective multicenter descriptive case series of patients with ChAc.

Results: We describe 8 patients (4 females) coming from 5 non-consanguineous families. Four of them came from the region of Extremadura. Disease onset began at a median age of 24 (range 15-33) while diagnosis was established at age 30 (26-36). Initial major symptoms were considered psychiatric in three patients, motor in three subjects and epileptic seizures in the remaining two. Movement disorder (MD) started with a median age of 34 years. Dystonia and chorea were the most frequent MD during evolution (7/8) while half of the patients had parkinsonism or tics. Characteristic feeding dystonia was present in four, head-drops in three and severe orolingual dyskinesias in four of the patients. Acanthocytes were detected in 5/6 patients, absence of chorein in 3/3 and a mutation in VPS13A gene was identified in 6/7 patients. Three out of six had atrophy of the caudate nucleus in brain MRI and 4/5 had elevated serum CK suggesting myopathy. 7/7 patients had electrophysiologic diagnosis of peripheral neuropathy. Three patients underwent GPi-DBS (2 because of disabling dystonia and 1 due to severe chorea). All of the patients received antipsychotics, 7 antiepileptics, 5 benzodiazepines and SSRIs, 3 tetrabenazine and only one small doses of levodopa-carbidopa. Functional decline was consistent with a mean score of 50% in f-UHDRS Independence Scale after a mean follow-up of 10 years after disease onset.

Conclusions: We observed an increased prevalence in the region of Extremadura, maybe due to a relative geographical isolation favouring consanguinity. Different clinical phenotypes determined various therapeutic approaches. Prognosis is unfavourable despite different treatment strategies. Several specific disabling symptoms do not have effective treatment.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/phenomenology-and-therapeutic-strategies-in-a-series-of-patients-with-chorea-acanthocytosis/