Luc Régal

TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.

TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.

TL;DR: The study of a mitochondrial translation disorder points toward the importance of posttranscriptional modification of mitochondrial tRNAs for proper mitochondrial function.

TL;DR: These findings add to the knowledge of S OD1-related familial ALS and demonstrate further clinicopathologic variability between different SOD1 mutations, and demonstrate the independent prognostic value of the G93C mutation.

TL;DR: A child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense are described and peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessiveAtaxia.