Marie Vidailhet

TL;DR: A simple diagnostic approach is proposed to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities to help identify born errors of metabolism causing movement disorders.

TL;DR: Different pathophysiological mechanisms may underlie similar phenotypes whereas different genotypes may share similar functional abnormalities, and the respective roles of corticostriatal–cortical and cerebellar loops remain to be clarified.

TL;DR: While the beneficial effect of botulinum toxin treatment on different aspects of CD is well established, robust evidence is still missing concerning some practical aspects, such as dose equivalence between different formulations, optimal treatment intervals, treatment approaches, and the use of supportive techniques including electromyography or ultrasounds.

TL;DR: The observation that the ATP1A3 p.Asp923Asn mutation results in typical AHC, typical RDP, and variant phenotypes suggests that these clinical syndromes represent different expressions of the same disorder, challenging the hypothesis of a mechanistically distinct functional effect of AHCand RDP-causing mutations.

TL;DR: There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders, and karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis.