Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.
PMID: 31410782 [PubMed - as supplied by publisher]

Source: Cerebellum - August 12, 2019 Category: Neuroscience Authors: Ciaccio C, Castello R, Esposito S, Pinelli M, Nigro V, Casari G, Chiapparini L, Pantaleoni C, TUDP Study Group, D'Arrigo S Tags: Cerebellum Source Type: research