In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.

Ataxin-2 (human gene symbol ) acts during stress responses, modulating mRNA translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. Conversely, the progressive ATXN2 gain of function due to the fact of polyglutamine (polyQ) expansions leads to a dominantly inherited neurodegenerative process named spinocerebellar ataxia type 2 (SCA2) with early adipose tissue loss and late muscle atrophy.

Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation.

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion mutations in the ATXN2 gene, mainly affecting motor neurons in the spinal cord and Purkinje neurons in the cerebellum. While the large expansions were shown to cause SCA2, the intermediate length expansions lead to increased risk for several atrophic processes including amyotrophic lateral sclerosis and Parkinson variants, e.g.

Use of anti-Parkinson medication during pregnancy: a case series.

Introduction: Experience about the use and safety of anti-Parkinson (anti-PD) medication during pregnancy is scarce.

Methods: We have retrospectively evaluated the course and outcome of pregnancy in PD patients who used anti-PD medication during their pregnancy.

Results: 14 PD patients who used anti-PD medication during part or whole of their pregnancy were included.

Acute kidney injury in the elderly hospitalized patients.

Objective: We aimed to evaluate acute kidney injury (AKI), occurrence of recovery and risk factors associated with permanent kidney injury and mortality in the elderly individuals.

Design: Evidence for this study was obtained from retrospective cohort study from our center.

Patients: A total of 193 patients (>65 years, mean age: 79.