Research Highlights

Biomarker discovery for SPG5 HSP

Posted - February 2018 in Research Highlights

Two cholesterol derivatives identified

DDHD1 and DDHD2 HSP genes investigated

Posted - in Research Highlights

Lipid metabolism dysfunction the common cause

Adaptor Protein (AP) genes linked with 5 types of HSP

Posted - in Research Highlights

Mechanisms & processes described in 3 research studies

Rare form of SPG4 HSP misdiagnosed

Posted - in Research Highlights

Early-onset symptoms “misleading”

New HSP mutation found in FA2H gene

Posted - in Research Highlights

Early-onset and rapid progression SPG35 HSP

Promising treatment found for SPG5 HSP

Posted - December 2017 in Research Highlights

Atorvastatin reduces toxic fatty compounds in the brain

Next Generation gene testing telling a story

Posted - in Research Highlights

Much of HSP genetics still not understood

HSP differences in identical twins

Posted - in Research Highlights

More than genetic inheritance at play

Brain activity levels potential diagnostic for SPG4 HSP

Posted - 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