An Unusual Kind of Repeat Expansion Disorder

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated at least several dozen units. In a newly described neurological disorder, a single extra unit of a 10-nucleotide repeat is sufficient to cause disease. The study in which CENTOGENE contributed significant insights was published in the highly prestigious journal Brain.


  • Alistair T Pagnamenta
  • et al.