An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

ABSTRACT:

Background

Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington's disease, the hereditary cerebellar ataxias, amyotrophic lateral sclerosis and frontotemporal dementia.

Main body

STR expansions are difficult to detect and may explain unsolved diseases, as highlighted by recent findings including: the discovery of a biallelic intronic 'AAGGG' repeat in RFC1 as the cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS); and the finding of 'CGG' repeat expansions in NOTCH2NLC as the cause of neuronal intranuclear inclusion disease and a range of clinical phenotypes. Howeve

SUBMITTER: Chintalaphani SR 

PROVIDER: S-EPMC8145836 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature