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Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide
1Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128 Calambrone, Pisa, Italy.
Current Molecular Medicine
|October 18, 2014
Summary
Hereditary spastic paraplegias (HSP) involve leg weakness and gait issues. Recent genetic discoveries are improving classification, diagnosis, and paving the way for new treatments.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Hereditary spastic paraplegias (HSP) are a group of inherited neurological disorders.
- Characterized by progressive spasticity and weakness in the lower limbs.
- Complicated forms present with additional neurological or extra-neurological signs.
Purpose of the Study:
- To review advances in understanding the molecular basis of HSP.
- To discuss the impact of genetic discoveries on classification and diagnosis.
- To explore potential disease mechanisms and future therapeutic avenues.
Main Methods:
- Review of genetic and clinical data over the past two decades.
- Identification of numerous loci and cloning of several SPG genes.
- Analysis of emerging data from next-generation sequencing platforms.
Main Results:
- Major progress in identifying the genetic underpinnings of HSP.
- Development of a molecularly-driven classification system.
- New insights into the pathogenesis of various HSP forms.
Conclusions:
- Genetic research has significantly advanced HSP understanding.
- Next-generation sequencing will reveal further heterogeneity.
- Common pathogenic themes offer hope for novel therapeutic strategies.
Keywords:
Hereditary spastic paraplegiaSPGgeneticgenotype/phenotype correlationsheterogeneitymechanisms of
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