Research Highlights

Brain activity levels potential diagnostic for SPG4 HSP

Posted - December 2017 in Research Highlights

Differences with disease severity identified

SPG2 HSP mechanism described

Posted - in Research Highlights

Loss of specialised support cells the cause

New HSP gene discovered

Posted - in Research Highlights

SERAC1 deficiency causing complex HSP

New HSP genotypes and phenotypes

Posted - in Research Highlights

From China, Japan, Italy, Brazil, UK, Korea, USA, Israel, Iran, Moldova, Greece, France, Belgium, Germany, UAE, Russia

Large study of SPG4 HSPers

Posted - September 2017 in Research Highlights

Four major findings

Lower motor neurons impaired in some HSPs

Posted - in Research Highlights

Classification based on motor neuron involvement

Hereditary Ataxias and Spastic Paraplegias

Posted - in Research Highlights

Genes and symptoms overlap

HSP classification and terminology

Posted - in Research Highlights

Genetics explosion prompts update

New HSP genotypes and phenotypes

Posted - in Research Highlights

From Canada, USA, Pakistan, France, Japan, Czech Republic and Belgium

Questioning disease classification systems

Posted - June 2017 in Research Highlights

A mechanistically inspired classification proposed

Particular form of Spastin is toxic

Posted - in Research Highlights

Interferes with fast axonal transport

Axonal degeneration in HSP

Posted - in Research Highlights

Link between different classes of HSP proteins

SPG11 mutations observed in HSP, ALS and CMT

Posted - in Research Highlights

Common mechanism of lipid accumulation in lysosomes

Impairment of Atlastin protein causes SPG3A type HSP

Posted - in Research Highlights

Important role in the regeneration of neurons disrupted

So-called Junk DNA not really junk

Posted - in Research Highlights

Junk DNA mutations found to cause HSP

More than 60 mutations exist for SPG3A HSP

Posted - in Research Highlights

Can’t predict symptom profile in this HSP type

New HSP genetic findings

Posted - in Research Highlights

From Mali, Norway, Germany, Qatar, Italy, Turkey, Saudi Arabia, Pakistan, USA, Poland

Mitochondrial dysfunction in SPG31 HSP

Posted - February 2017 in Research Highlights

Function restored in cell samples

Two siblings with blood disorder and HSP

Posted - in Research Highlights

Both conditions autosomal recessive inheritance

Large national HSP database in Canada

Posted - in Research Highlights

Valuable resource for much-needed research