GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12325
Abstract: Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen‐branching enzyme and secondary storage of glycogen… read more here.
Keywords: adult polyglucosan; polyglucosan body; disease; body disease ... See more keywords
AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
Sign Up to like & getrecommendations! Published in 2022 at "Neurotherapeutics"
DOI: 10.1007/s13311-022-01218-7
Abstract: Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme ( GBE1 ) gene and is characterized by progressive… read more here.
Keywords: glycogen; adult polyglucosan; polyglucosan bodies; disease ... See more keywords
Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease
Sign Up to like & getrecommendations! Published in 2017 at "Neurology"
DOI: 10.1212/wnl.0000000000003945
Abstract: A 48-year-old man of Ashkenazi Jewish descent developed neurogenic bladder and mild cognitive dysfunction. Neurologic examination and CSF analysis were unremarkable. Brain MRI demonstrated white matter changes in the internal capsule, optic radiations, mesencephalon, superior… read more here.
Keywords: matter changes; adult polyglucosan; white matter; cord atrophy ... See more keywords