Case presentation: Female, 5 years old, daughter of a non-consanguineous couple, with pregnancy history toxoplasmosis seroconversion but no perinatal complications and negative newborn screening tests. She had adequate neuropsychomotor development up to three months age, when she began experience milestones regression acquired microcephaly, accompanied by hearing loss movement disorders. At fir...

The majority of proteins localised to mitochondria are encoded by the nuclear genome, with approximately 1500 imported into mammalian mitochondria. Dysfunction in this fundamental cellular process is linked a variety pathologies including neuropathies, cardiovascular disorders, myopathies, neurodegenerative diseases and cancer, demonstrating importance mitochondrial protein import machinery for...

FINCA (Fibrosis, Neurodegeneration, Cerebral Angiomatosis) syndrome is a new genetic multiorgan disease caused by mutation in NHLRC2 (NHL repeat-containing protein 2). Disease manifests at an early age interstitial lung disease, neurodegenerative disorders, hemolytic anemia, gastrointestinal liver dysfunction and other changes. The was first described 2018 three children who died before the of ...

Alzheimer's disease is a neurological disorder in which the death of brain cells causes memory loss and cognitive decline. A neurodegenerative type of dementia, the disease starts mild and gets progressively worse. Like all types of dementia, Alzheimer's is caused by brain cell death. The most common presentation marking Alzheimer's dementia is where symptoms of memory loss are the most promine...