Research Highlights

New insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients.                  

SPG10 patients have pure HSP                      

Gene analysis should be considered for patients with spastic paraplegia even in the absence of any family history.   Gene analysis should be considered for patients with spastic paraplegia even in the absence of any family history. SOURCE: Brain Nerve. 2008 Feb;60(2):187-9. Spastic paraplegia caused by a novel mutation in the spastin gene (1207C–>G, P361R)… Continue reading New spastin mutation discovered

Study on Chinese family

Spastin, implicated in microtubule-severing activity, is now implicated in forming bundles of microtubules Recent evidence confirmed that spastin possesses microtubule-severing activity but can also bundle microtubules in vitro. Understanding the physiologic and pathologic involvement of these activities and their regulation is critical in the study of HSP. SPG4, the gene encoding for spastin, a member… Continue reading Spastin responsible for microtubule bundling

Chinese study links SPG6 mutation to HSP expression Mutations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia (ADHSP). To date, little is known about the relationship between genotype-phenotype correlation. In order to examine the gene mutation associated with the genotype-phenotype of Chinese kindred with ADHSP, linkage analysis and mutation detection were performed. For… Continue reading Nerve and muscle impairment defined

Brazilian HSP study shows gender differences A Brazilian HSP study shows an earlier age-of-onset and more severe symptoms in men than women within one extended Brazilian family.  Researchers say that understanding this apparent ‘partial protection’ is of utmost importance in the search for a cure. SPG4 mutations are the most frequent cause of autosomal-dominant hereditary… Continue reading Some 'partially protected' from HSP effects

A positive projection for the future has been made by a Miami researcher based on a review of current and emerging understanding of the mechanisms of HSP Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. A total of 30 chromosomal… Continue reading Understanding HSP genetics to translate into drug therapy

Founder effect’ suspected in French Canadians with SPG4 HSP

Understanding the mechanisms at work