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Chac inspection results4/7/2023 On neurological examination, the patient showed perioral chorea, reduced muscle tone and tendon reflex and sporadic mouth ulcers, especially accompany frequent suck-mimicking activity. ![]() The past history revealed that he was diagnosed with generalized tonic–clonic seizure (GTCS) at age 30, but maintaining continuous remission with regular sodium valproate administration. His symptoms had been gradually progressing, aggravated recently by involuntary self-mutilation behaviors: tongue and lip biting. Based on the ChAc literatures ever published and these two cases, we conclude several suggestive features and propose a diagnostic path of ChAc, aiming to facilitate the future diagnosis and management of ChAc in China.Ī 37-year-old man, a warehouse keeper, presented with perioral chorea, dysphagia, dysarthria, vocalization, and involuntary upper limb movements for 5 months. Moreover, in light of the sharp contrast between population base and reported cases in China and the global prevalence of ChAc, it can be concluded that the morbidity of ChAc has been underdiagnosed in China ( Liu et al., 2014). After a retrospective review of the ChAc case ever reported, we regrettably find that few cases are from China. Herein, we report two clinical cases diagnosed with ChAc, varying from VPS13A mutation patterns, presenting manifestations, symptom spectrum to laboratory biomedical indicators. Hence, the multifarious VPS13A mutation patterns, intricate symptom complex and overlapped clinical features enable diagnosis and differential diagnosis of ChAc an enormous challenge. While viewing from phenotypic aspects, ChAc can manifest as chorea, dystonia, cognitive impairment, seizures, psychosis, and even Parkinsonian features ( Ueno et al., 2001), thus bearing immense resemblance to Huntington’s disease, dystonia, epilepsy, Parkinsonism, etc. Chorein, the VPS13A gene expression product, is ubiquitously detected in a wide variety of human tissues ( Dobson-Stone et al., 2004), which has been proven to be markedly reduced or absent in ChAc patients with the mutations described above ( Dobson-Stone et al., 2004 Velayos-Baeza et al., 2004). Up to now, the VPS13A gene mutation types reported ever include missense, nonsense, frameshift, duplication, deletion and splice site mutations ( Velayos-Baeza et al., 2004). ![]() ![]() From a perspective of genotype, ChAc mainly follows an autosomal recessive (AR) inheritance pattern ( Danek et al., 2012), and the causative gene is vacuolar protein sorting 13A ( VPS13A), a large gene consisting of 73 exons located in chromosome 9q21 ( Walker et al., 2012). Chorea-acanthocytosis (ChAc, OMIM 200150) occupies the main entity of this disease group which also includes McLeod syndrome (MLS), Huntington’s disease-like 2 (HDL2) and, more rarely, pantothenate kinase-associated neurodegeneration (PKAN) ( Walker et al., 2011). Neuroacanthocytosis (NA) syndromes encompass a group of rare diseases characterized by the presence of “thorny” red blood cells (acanthocytes) in peripheral blood smear and neurodegeneration of the basal ganglia, along with hyperkinetic movement, seizures, cognitive impairment, and neuropsychiatric manifestations ( Walker et al., 2011).
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