Posterior reversible encephalopathy syndrome associated with use of Atezolizumab for the treatment of relapsed triple negative breast cancer.

Posterior reversible encephalopathy syndrome (PRES) is a complex neurological disorder with multiple clinical manifestations including headaches, seizures, and altered mental status. It is associated with many conditions including malignancy and medications including chemotherapy and immunotherapy. We report the case of a 56-year old female with a history of advanced triple negative breast cancer treated with atezolizumab (a PD-L1 inhibitor), paclitaxel and ipatasertib (investigational AKT inhibitor), who developed hypertension, confusion, and imaging findings consistent with PRES.

MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines.

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is commonly associated with the A3243G mitochondrial DNA (mtDNA) mutation encoding the transfer RNA of leucine (UUR) (tRNA (Leu(UUR))). The pathogenetic mechanisms of this mutation are not completely understood. Neuronal functions are particularly vulnerable to alterations in oxidative phosphorylation, which may affect the function of the neurotransmitter glutamate, leading to excitotoxicity.

International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia?

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties of the International Cooperative Ataxia Rating Scale (ICARS), a commonly used clinician-rated measure, in Friedreich's ataxia (FRDA). People with confirmed FRDA were assessed by using the ICARS.

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up.

Background: Decreased mitochondrial respiratory chain function and increased oxidative stress have been implicated in the pathogenesis of Friedreich ataxia (FRDA), raising the possibility that energy enhancement and antioxidant therapies may be an effective treatment.

Objective: To evaluate the long-term efficacy of a combined antioxidant and mitochondrial enhancement therapy on the bioenergetics and clinical course of FRDA.

Design: Open-labeled pilot trial over 47 months.

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous condition, characterised principally by progressive spasticity of the lower limbs. Forty percent of autosomal dominant (AD) pedigrees show linkage to the SPG4 locus on chromosome 2, which encodes spastin, an ATPase associated with diverse cellular activities (AAA) protein. We have performed a clinical and genetic study of three AD-HSP families linked to SPG4.