Objective: To describe Romani patients with ANO10 mutation diagnosed at a single-center in Serbia and to provide a systematic literature review on ANO10 phenotype and phenotype-genotype correlations.
Background: Mutations in ANO10 gene, involved in the synthesis of anoctamin 10, are rare cause of autosomal recessive cerebellar ataxia (ARCA). The most common genotype is compound heterozygotes. Due to a rarity of this disease entity, only 56 patients were described in the literature so far.
Method: Patients diagnosed with ANO10 mutation at the Neurology Clinic in Belgrade were included. A systematic review of the literature was performed within the MDSGene initiative.
Results: We identified 22 ANO10 hom c.1150_1151delTT (frameshift p.L384Nfs*91) mutation carriers of Romani ancestry at our Department. A total of 67 clinically affected ANO10 mutation carriers were included in the phenotype analysis (of those, 56 patients were published in 13 original articles). Majority of patients (70%) were Romani. Mean age of disease onset was 26.8±11.5 years. Among cerebellar features, gait and limb ataxia, dysarthria and nystagmus were more common compared to dysmetric saccades, dysphagia, slow saccades and skew deviation. Additional clinical features included cognitive impairment (89%), spasticity (57%), tremor (40%), bradykinesia (36%), pes cavus (27%), autonomic dysfunction (26%), stridor (24%) and seizures (15%). Lower motor neuron affection manifested with muscle weakness, atrophy, fasciculations and pathological EMNG findings in 70% of patients. Tortuosity of conjunctival vessels was present in 92%, strabismus in 61%, semiptosis in 56%, and facial myokymia in 12% of patients. All patients had cerebellar atrophy and one patient had additional frontal and pontine atrophy. Literature on ANO10 genotype-phenotype correlations is sparse.
Conclusion: An anchor of phenotypic expression of ANO10 mutations is cerebellar syndrome combined with additional clinical features. Tortuosity of conjunctival vessels, semiptosis and lower motor neuron involvement are distinguishing characteristics from other ARCA.
To cite this abstract in AMA style:I. Stankovic, N. Dragasevic, A. Milovanovic, AA. Marjanovic, M. Brankovic, V. Dobricic, I. Petrovic, M. Svetel, I. Novakovic, V. Kostic. Phenotype characteristics of ANO10 mutation carries: a case series from Serbia and a systematic review of the literature [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/phenotype-characteristics-of-ano10-mutation-carries-a-case-series-from-serbia-and-a-systematic-review-of-the-literature/. Accessed December 7, 2023.
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