Research Highlights

Cholesterol and SPG5 HSP

Posted - March 2010 in Research Highlights

Lower cholesterol good for you?

Link between HSP & ALS

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Spatacsin mutations cause both HSP & ALS

Gene Therapy success

Posted - December 2009 in Research Highlights

World first

Stem Cell breakthrough

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Early stage MS reversed

Gene therapy for Parkinson’s

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Encouraging in early trials

Delving further into SPG4 HSP

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Wider range of HSPs found

Delving further into SPG3A HSP

Posted - in Research Highlights

Wider range of HSPs found

Silver Syndrome findings

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Both SPG4 & 3A implicated

Shedding light on HSP

Posted - September 2009 in Research Highlights

Nerve roots like plant roots?

Cognitive decline & HSP

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Evidence of SPG4 relationship

Direct evidence for HSP mechanism

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Defective nerve transport implicated

Cause of some HSPs proposed

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Nerve signalling disrupted

Mapping disease connections

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Bipolar linked to HSP

Atlastin function defined

Posted - in Research Highlights

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… Read More »

Australians make stem cell breakthrough

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Turning skin cells into stem cells

Largest Population Study ever

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 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… Read More »

HSP gene increases toxic proteins

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 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… Read More »

SPG36 – new HSP gene locus

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 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… Read More »

REEP1 AD-HSP study

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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… Read More »