Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation.

Background: PINK1 deficiency causes the autosomal recessive PARK6 variant of Parkinson's disease. PINK1 activates ubiquitin by phosphorylation and cooperates with the downstream ubiquitin ligase PARKIN, to exert quality control and control autophagic degradation of mitochondria and of misfolded proteins in all cell types.

Methods: Global transcriptome profiling of mouse brain and neuron cultures were assessed in protein-protein interaction diagrams and by pathway enrichment algorithms.

Primary skin fibroblasts as a model of Parkinson's disease.

Parkinson's disease is the second most frequent neurodegenerative disorder. While most cases occur sporadic mutations in a growing number of genes including Parkin (PARK2) and PINK1 (PARK6) have been associated with the disease. Different animal models and cell models like patient skin fibroblasts and recombinant cell lines can be used as model systems for Parkinson's disease.

Parkinson patient fibroblasts show increased alpha-synuclein expression.

Parkinson's disease (PD) is a neurodegenerative movement disorder of advanced age with largely unknown etiology, but well documented tissue damage from oxidative stress. Increased alpha-synuclein (SNCA) expression is known to cause a rare form of PD, early-onset autosomal dominant PARK4. We have previously shown that loss-of-function mutations of the mitochondrial kinase PINK1 which cause the early-onset recessive PARK6 variant result in oxidative damage in patient fibroblasts.

[Evaluation of the Spanish version of the Memory Impairment Screen].

Introduction: Screening tests for detecting dementias are usually long, sometimes difficult to apply, and require a certain amount of instruction prior to using them. The Memory Impairment Screen (MIS) is a fast (3-4 minutes), easy-to-apply screening test that evaluates short-term verbal memory.

Aim: To evaluate the value of the MIS for screening for dementia in our population.

[Recurrent meningitis as a manifestation of spinal dysraphism in a young adult].

Introduction: Dysraphias are a varied set of anomalies affecting neuroectodermic tissue caused by the alteration of the neural tube during embryogenesis. Neuroradiological classification is broad and clinical manifestations are numerous: they affect the skin, osteomuscular tissue and the vascular, urological and nervous systems. We describe the case of a young adult with infrequent spinal dysraphism, which appeared as recurrent meningitis, and we stress the importance of studies using neuroimaging to define dysraphias.