Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Expansions of repeat DNA tracts cause> 70 diseases, and ongoing expansions in brains
exacerbate disease. During expansion mutations, single-stranded DNAs (ssDNAs) form …

Objective The purpose of this study was to characterize a metabolic brain network
associated with X‐linked dystonia‐parkinsonism (XDP). Methods Thirty right‐handed …

Many Mendelian disorders, such as Huntington's disease (HD) and spinocerebellar ataxias,
arise from expansions of CAG trinucleotide repeats. Despite the clear genetic causes …

Neurological diseases associated with pathogenic variants in a specific gene, or even with a
specific pathogenic variant, can show profound phenotypic variation with regard to symptom …

In neurodegenerative diseases, the characterization of the prodromal phase is essential for
the future application of disease‐modifying therapies. X‐linked dystonia‐parkinsonism is a …

Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant
processing of slipped DNAs, may drive Huntington's disease, fragile X syndrome, and …

Repeat expansion disorders (REDs) are monogenic diseases caused by a sequence of
repetitive DNA expanding above a pathogenic threshold. A common feature of the REDs is a …

While many genetic causes of movement disorders have been identified, modifiers of
disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a …