Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica"
DOI: 10.1007/s00401-020-02128-8
Abstract: Several intracellular proteins are involved in mediating vesicular transport of protein and lipid cargo from the endoplasmic reticulum (ER) to the Golgi apparatus (GA) in eukaryotic cells. Errors in membrane trafficking between ER and GA… read more here.
Keywords: epilepsy; yif1b cause; progressive encephalopathy; truncating mutations ... See more keywords
Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010194
Abstract: A 57-year-old woman presented with a 20-year history of progressive lower extremity weakness, spasticity, and proprioception deficits. She was given a diagnosis of primary progressive multiple sclerosis at age 38. Her Achilles tendons were enlarged… read more here.
Keywords: xanthomatosis; treatable cause; spinal xanthomatosis; misdiagnosed treatable ... See more keywords