Differences with disease severity identified
Research Highlights
SPG2 HSP mechanism described
Loss of specialised support cells the cause
New HSP gene discovered
SERAC1 deficiency causing complex HSP
New HSP genotypes and phenotypes
From China, Japan, Italy, Brazil, UK, Korea, USA, Israel, Iran, Moldova, Greece, France, Belgium, Germany, UAE, Russia
Large study of SPG4 HSPers
Four major findings
Lower motor neurons impaired in some HSPs
Classification based on motor neuron involvement
Hereditary Ataxias and Spastic Paraplegias
Genes and symptoms overlap
HSP classification and terminology
Genetics explosion prompts update
New HSP genotypes and phenotypes
From Canada, USA, Pakistan, France, Japan, Czech Republic and Belgium
Questioning disease classification systems
A mechanistically inspired classification proposed