Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

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 …

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …

Background The C9orf72 hexanucleotide expansion is one of the latest discovered repeat
expansion disorders related to neurodegeneration. Its association with the FTD/ALS …

Spinocerebellar ataxia 36 (SCA36) is a type of repeat expansion-related neurodegenerative
disorder identified a decade ago. Like other SCAs, the symptoms of SCA36 include the loss …

The presence of fragile X mental retardation 1 (FMR1) premutation has been linked to
patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia …

Abstract Spinocerebellar ataxia type 12 (SCA12) is a progressive neurological disorder with
a unique prevalence in North Indian population. Trinucleotide CAG repeat expansion …

Gene expression, often determined by single nucleotide polymorphisms, short repeated
sequences known as short tandem repeats (STRs), structural variants, and environmental …