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
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0204-5
Abstract: An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of structural microtubulin-associated proteins have been identified to cause a wide spectrum of… read more here.
Keywords: early onset; progressive encephalopathy; variant; encephalopathy ... See more keywords
Progressive encephalopathy due to chronic exposure to lead
Sign Up to like & getrecommendations! Published in 2022 at "Arquivos de Neuro-Psiquiatria"
DOI: 10.1055/s-0042-1758393
Abstract: A 70-year-old man reported a 2-year history of progressive gait imbalance and cognitive decline (memory, executive functions, and language impairment). A physical examina-tion revealed spastic ataxia without peripheral involvement. The patient worked with car battery… read more here.
Keywords: encephalopathy due; due chronic; exposure lead; chronic exposure ... See more keywords