Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

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 …

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative
disease characterized by eosinophilic intranuclear inclusions in the nervous system and …

Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …

The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …