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
• ISSN: 2051-5960; 2051-5960
• DOI: 10.1186/s40478-022-01383-y

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 leukoencephalopathy (OPML), and oculopharyngodistal myopathy (OPDMs). Although the upstream open reading frame has not been elucidated in OPML and OPDMs, polyglycine (polyG) translated by expanded CGG repeats is reported to be as a primary pathogenesis in FXTAS and NIID. Collectively, these findings indicate a new disease entity, the polyG diseases. In this review, we state the common clinical manifestations, pathological features, mechanisms, and potential therapies in these diseases, and provide preliminary opinions about future research in polyG diseases.