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Updated: Feb 14, 2026

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

Hereditary spastic paraplegia.

Craig Blackstone¹

¹Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

Handbook of Clinical Neurology

|February 27, 2018

Summary

This summary is machine-generated.

Hereditary spastic paraplegias (HSPs) are diverse genetic disorders affecting motor neurons. Research reveals common cellular pathway disruptions, offering potential therapeutic targets for these neurodegenerative conditions.

Keywords:

Strümpell–Lorrain autophagy bone morphogenetic protein endoplasmic reticulum lipid metabolism lysosome motor paraplegia spasticity thin corpus callosum

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Area of Science:

Neurology
Genetics
Cell Biology

Background:

Hereditary spastic paraplegias (HSPs) encompass a diverse group of neurological disorders characterized by lower-extremity spasticity.
These disorders stem from a length-dependent axonopathy affecting corticospinal upper motor neurons.
HSPs present in 'pure' and 'complex' forms, with varying associated neurological and extraneurological features.

Purpose of the Study:

To review the genetic diversity and molecular pathogenesis of HSPs.
To identify common cellular pathways implicated in HSP development.
To highlight potential therapeutic targets for HSPs.

Main Methods:

Literature review of genetic loci and mutated genes in HSPs.
Analysis of studies on molecular pathogenesis.
Identification of converging cellular pathogenic themes.

Main Results:

HSPs are among the most genetically diverse neurological disorders, with over 70 identified genetic loci and approximately 60 mutated genes.
Key cellular functions like membrane trafficking, mitochondrial function, organelle dynamics, axon transport, and lipid metabolism are crucial for axon development and maintenance in HSPs.
Several converging cellular pathogenic themes have been identified across common HSP forms.

Conclusions:

Understanding the molecular basis of HSPs reveals critical roles for fundamental cellular processes.
The identified common pathogenic pathways represent promising targets for future therapeutic interventions in HSPs.
Further research into these pathways could lead to novel treatments for these debilitating neurological conditions.