X-linked adrenomyeloneuropathy (AMN) is an inherited neurometabolic disorder caused by
malfunction of the ABCD1 gene, characterized by slowly progressing spastic paraplegia …

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive
disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic …

Background Large studies analyzing magnetic resonance imaging correlates in different
genotypes of mitochondrial disorders are far and few. This study sought to analyze the …

Mitochondrial dysfunction is a critical step in the pathogenesis of many neurodegenerative
diseases. The p32/C1qbp gene functions as an essential RNA and protein chaperone in …

Introduction Neuroimmunological diseases such as autoimmune encephalitis (AE) or
acquired demyelinating syndromes (ADS), can present with neurological symptoms and …

Background Mouse has been extensively used as a tool for investigating the onset and
development of human neurological disorders. As a first step to construct a transgenic …

Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic
mutations in SDHB have been identified in only a few patients with complex II deficiency and …

Several inherited human diseases have been linked to mitochondrial aminoacyl-tRNA
synthetases (mtARSs). Leukoencephalopathy with brainstem and spinal cord involvement …

Mitochondrial diseases typically involve organs highly dependent on aerobic metabolism
and are often progressive with high morbidity and mortality. In the previous chapters of this …

Introduction Zellweger spectrum disorder (PBD-ZSD) is a disease continuum caused by
mutations in a subset of PEX genes required for normal peroxisome assembly and function …