The polyG diseases: a new disease entity

• Published in: Acta neuropathologica communications Vol. 10; no. 1; p. 79
• Main Authors: Liufu, Tongling, Zheng, Yilei, Yu, Jiaxi, Yuan, Yun, Wang, Zhaoxia, Deng, Jianwen, Hong, Daojun
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 31.05.2022; BioMed Central; BMC
• Subjects: Amyotrophic lateral sclerosis; Ataxia; Ataxia - complications; Atrophy; Biopsy; Chromosomes; Cognitive ability; Dementia; Disease; Fragile X Mental Retardation Protein; Fragile X Syndrome - pathology; Fragile X-associated tremor/ataxia syndrome; Genomes; Genotype & phenotype; Humans; Intranuclear Inclusion Bodies; Males; Medical imaging; Medical research; Medicine, Experimental; Microscopy; Movement disorders; Muscular Dystrophies; Mutation; Neurodegenerative Diseases; Neuronal intranuclear inclusion disease; Oculopharyngeal myopathy with leukoencephalopathy; Oculopharyngodistal myopathy; Peptides; Peripheral neuropathy; PolyG diseases; Proteins; Review; Tremor; Tremor (Muscular contraction); Oculopharyngodistal myopathy; Oculopharyngeal myopathy with leukoencephalopathy; Fragile X-associated tremor/ataxia syndrome; Neuronal intranuclear inclusion disease; PolyG diseases

Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5' untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oculopharyngeal myopathy with l...