Research Highlights

Linking HSP mutation to symptoms

The results of a large study in Germany indicate that missense mutations could cause earlier onset of HSP. The SPAST (SPG4) gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP). In this study, we attempted to expand and refine the genetic and phenotypic characteristics… Continue reading Linking HSP mutation to symptoms

Estonian HSP Study

The study reports an HSP prevalence rate in the population of 4.4 people per 100,000. 21.6% of Estonian HSP patients in the study were found to have mutations in the spastin gene (SPG4). Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder, with a variable reported prevalence ranging from 0.5 to 12… Continue reading Estonian HSP Study

Critical HSP factor identified

 A Chinese study has shown the critical role of ‘acetyl-CoA transporter’ for normal development and function of the motor neurons.  HSP mutation shown to render acetyl-CoA transporter non-functional. Hereditary spastic paraplegias (HSPs), characterized by progressive and bilateral spasticity of the legs, are usually caused by developmental failure or degeneration of motor axons in the corticospinal… Continue reading Critical HSP factor identified

10 new AD-HSP mutations found

Most of the new mutations were frameshift or nonsense (80%), resulting in a dysfunctional protein. Objectives – The hereditary spastic paraplegias (HSP) are a genetically and clinically heterogeneous group of neurodegenerative disorders, mainly characterized by a progressive spasticity and weakness of the lower limbs. Mutations in the SPG4 and SPG3A genes are responsible for approximately… Continue reading 10 new AD-HSP mutations found

New SPG7 mutation found in Norway

Causes pure, late onset HSP Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the… Continue reading New SPG7 mutation found in Norway

Stem cells without using embryos

Two teams of scientists reported on November 20, 2007 that they had been successful in turning human skin cells into embryonic stem cells. Both teams used a process of adding four genes to skin cells, which reprogrammed their chromosomes, converting them into blank slates that should be able to turn into any of the 220… Continue reading Stem cells without using embryos