ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
AbstractAutosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in theANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients with sporadic or autosomal recessive adult-onset ataxia. We identified 11ANO10 gene variants in 10 patients from 8 families (10%): 4 mutations were previously described and 7 were novel. Age at onset ranged between 27 and 53 years. All patients presented ataxia, pyramidal signs and cerebellar atrophy at brain MRI. Additional signs were bradykinesia (7/10), mild vertical gaze paresis (5/10), pes cavus (4/10), and sphincteric disturbances (3/10). Six patients, with normal MMSE score, failed several neuropsychological te sts rating executive functions. Three patients had giant somatosensory evoked potentials and epileptic spikes in EEG without clinical evidence of seizures. Our observational study indicates a high frequency of ARCA3 disease in sporadic patients with adult-onset cerebellar ataxia. We extended theANO10 mutational spectrum with the identification of novel gene variants, and further defined the clinical, cognitive, and neurophysiological features in a new cohort of patients. These findings may contribute to the refinement of the complex ARCA3 phenotype and be valuable in clinical management and natural history studies.
Publication date: Available online 29 May 2020Source: SeizureAuthor(s): Monika Mochol, Erik Taubøll, Pål Aukrust, Thor Ueland, Ole A. Andreassen, Sigrid Svalheim
Publication date: September 2020Source: Epilepsy &Behavior, Volume 110Author(s): Isabelle Sylvén, Ingrid Olsson, Tove Hallböök, Bertil Rydenhag, Colin Reilly
Publication date: September 2020Source: Epilepsy &Behavior, Volume 110Author(s): Yan Jiang, Yi Yang, Fei Feng, Ying Zhang, Xiao-Hang Wang, Fei-Lin Ni, Qun Hou, Li-Ping Zhang
Publication date: Available online 30 May 2020Source: Epilepsy &BehaviorAuthor(s): Naoto Kuroda
CONCLUSION: Almost all patients' clinical features were associated with 18q- syndrome. There are very few reported cases with similar genotype possibly caused by a de novo unequal recombination mechanism. PMID: 32468472 [PubMed - in process]
Publication date: September 2020Source: Epilepsy &Behavior, Volume 110Author(s): Christopher Ll Morgan, Stefan Varga, Wan Tsong, Sara Jenkins-Jones, Sarah Holden
The recent study by Vollono and colleagues  provides a concise report on a SARS-CoV-2 associated focal status epilepticus case. The authors hypothesize that a neurotropic mechanism may be involved in the development of the clinical presentation, albeit without PCR -proven neuroinvasion.
Conditions: Resistant Epilepsy, Drug; Adolescent Epilepsy; Children Epilepsy; Children and Adolescents With Resistant Epilepsies Interventions: Drug: MGCND00EP1; Drug: Placebo; Diagnostic Test: ECG; Diagnostic Test: EEG; Diagnostic Test: Blood and urine collection Sponsor: MGC Pharmaceuticals d.o.o Not yet recruiting
To report progress, to identify gaps, and to plan epilepsy surveillance and research activities more effectively, the Centers for Disease Control and Prevention (CDC) Epilepsy Program has summarized findings from selected CDC-supported surveillance and epi...
Conclusion: This national cohort offers a unique opportunity to deep phenotype a large group of mitochondrial disease patients, bridge the gap in our understanding of disease progression, develop clinical guideline on patient care and facilitate patient recruitment for any future trials.Disclosure: Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Nesbitt has nothing to disclose. Dr. Pitceathly has nothing to disclose. Dr. Grady has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Bright has nothing to disclose. Dr. Feeney has nothing to disclose. Dr. Rahman has nothing to disclose. Dr. ...