Sudden cardiac death in multiple sclerosis caused by active demyelination of the medulla oblongata

Item does not contain fulltextCardiovascular autonomic dysfunction is not uncommon in multiple sclerosis (MS) and is related to the involvement of the vegetative areas of cardiac innervations in the medulla oblongata. It has been suggested that this may contribute to the occurrence of sudden death in MS. In this case report, we present a patient with active relapsing-remitting MS who died unexpectedly due to the sudden onset of cardiac arrythmias. Post-mortem examination showed the presence of active demyelinating lesions in the medulla oblongata. As far as we know, this is the first case report clearly linking sudden cardiac death to active MS on the histopathological level

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Gerstmann-Straussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.Univ Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, SP, BrazilAC Camargo Canc Ctr, Sao Paulo, SP, BrazilUniv Fed Ceara, Fac Med, Dept Neurol, Fortaleza, Ceara, BrazilUniv Fed Rio de Janeiro, Dept Patol, Rio De Janeiro, RJ, BrazilUniv Fed Sao Paulo, Secao Neurol Comportamental, Sao Paulo, SP, BrazilUniv Sao Paulo, Inst Biociencias, Ctr Estudos Genoma Humano, Sao Paulo, SP, BrazilUniv Sao Paulo, Dept Patol, Div Neuropatol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Secao Neurol Comportamental, Sao Paulo, SP, BrazilWeb of Scienc