Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function
In conclusion, these data indicated that both A201T and I209T mutations disrupt Kir4.1 activity and are the cause of SeSAME/EAST-like syndrome in the siblings.
We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C>T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children. [...] Georg Thieme Verlag KG Stuttgart · New ...
Conditions: Cerebellar Ataxia; Dysarthria; Healthy Interventions: Diagnostic Test: MRI; Device: TMS; Behavioral: Speech-motor behavioral testing Sponsors: University of California, San Francisco; University of California, Berkeley; University of Wisconsin, Madison; National Institute on Deafness and Other Communication Disorders (NIDCD) Recruiting
Shanshan Zhang1, Dongli Yuan2 and Ge Tan1* 1Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China 2The Institute of Medical Information, Chongqing Medical University, Chongqing, China Primary systemic vasculitis can affect every structure in both the central and peripheral nervous system, causing varied neurological manifestations of neurological dysfunction. Early recognition of the underlying causes of the neurological symptoms can facilitate timely treatment and improve the prognosis. This review highlights the clinical manifestations of primary systemic vasc...
EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases.
AbstractThe central pathologies present with perverted auditory perception and compromised postural control. Considering the existing controversy this study involves assessments of 100 cases of post fossa tumefactions in which a detailed clinical and neuro-otological (pure tone audiometry, electronystagmography, brainstem evoked response audiometry) profile is compared with their imaging patterns. The CP angle schwannomas (N = 26) presented with abnormal speech tests (N = 18), abnormal auditory adaptation (N = 7) and ABR with pathologically increased latency of wave V (N =&...
Conclusion: The MRI results with SWI were related to neurotological findings in patients suffering from sensorineural deafness with ataxia due to SS. Our findings support the integration of the SWI and 3D-CISS sequences into the MRI protocol for all patients referred for evaluation of the extent of SS.
Conditions: Stroke; Spinocerebellar Ataxia; Cerebral Stroke; Dysphagia; Dysarthria Interventions: Device: Intermittent Perturbation to Continuous Perturbation; Device: Continuous Perturbation to Intermittent Perturbation Sponsors: University of Florida; National Institute on Deafness and Other Communication Disorders (NIDCD); National Institutes of Health (NIH) Recruiting