Research Highlights

Atlastin function defined

Important for ‘building blocks’ Study on fruit flies provides evidence that Atlastin is required for normal growth of muscles and nerve synapses where muscles and nerves meet. Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterized by progressive spasticity and weakness of the lower extremities. The most common early-onset form of HSP is caused… Continue reading Atlastin function defined

Largest Population Study ever

 HSP rate 7.4 per 100,000 population   A Norwegian study of more than 2.5 million people has found an HSP prevalence rate of 7.4/100,000 of population – a higher rate, but in the same range as previous studies.  No differences in rate relating to gender were found.  Average age at onset was 24 years old. Extrapolated to… Continue reading Largest Population Study ever

HSP gene increases toxic proteins

 Effects on cells studied HSP-associated mutations in the NIPA1 gene are shown to lead to cellular and functional deficits associated with the accumulation of toxic proteins within the cell. We studied the consequences of expression of wild-type (WT) human NIPA1 and two mutant forms of NIPA1 with known HSP-associated mutations (T45R and G106R) on cultured… Continue reading HSP gene increases toxic proteins

SPG36 – new HSP gene locus

 Causes complicated AD-HSP A German study reports finding a new locus (SPG36) for autosomal dominant HSP complicated by peripheral neuropathy in a German family. OBJECTIVE: Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic… Continue reading SPG36 – new HSP gene locus

REEP1 AD-HSP study

Linking genes to clinical presentation Linking REEP1 gene mutations with clinical presentation from 2 members of the same family, researchers found genetic heterogeneity (diversity) rather than similarity – a finding which has been reported across other HSP genes. OBJECTIVE: To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant… Continue reading REEP1 AD-HSP study

How paraplegin works (SPG7)

Paraplegin loss responsible for cell changes causing rare SPG7 HSP Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutations.… Continue reading How paraplegin works (SPG7)

Spastin levels found to be important

Study of spastin levels gives more insight into the molecular cause of HSP. Study reveals that SPG4 is a dosage-sensitive gene, and broadens the understanding of the role of spastin in neurite growth and microtubule dynamics. Abstract: Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower limbs, owing to degeneration of… Continue reading Spastin levels found to be important