Research Highlights

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

SPG42 HSP mechanism now well understood

Posted - in Research Highlights

Study of mice confirms earlier findings

Complicated form of HSP linked to new gene

Posted - in Research Highlights

Impaired lipid metabolism mechanism

SPG78 HSP mechanism investigated

Posted - in Research Highlights

Pathway leads to sell organelle impairment

New HSP genetic findings

Posted - in Research Highlights

From China, the Middle East, Italy and France