Network interactions investigated
Research Highlights
HSP studied in Japanese population
32 new mutations discovered
Promising HSP drugs identified
Potential for future clinical trials
Mild cases of SPG4 HSP studied
A high percentage were asymptomatic
SPG4 HSP high frequency of large deletions
Six new mutations found
Treatment for rare form of complicated HSP
Betaine successful in lowering cysteine
SPG33 HSP mutation affects protrudin
Protrudin important in cell structure and function
New Spastin mutation discovered
Found to affect a neighbouring gene
Discovery doubles number of HSP causes
Genes never before linked with human disease found
Inheritance patterns in HSP easy to misinterpret
Implications for choice of genetic tests and screens