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Related Concept Videos

Gene Therapy00:59

Gene Therapy

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Articles linked to this work by shared authors, journal, and citation graph.

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Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review.

Movement disorders : official journal of the Movement Disorder Society·2026
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A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

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A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

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Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.

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Related Experiment Video

Updated: Aug 9, 2025

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
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Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

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[Gene Therapy for Ataxias].

Thomas Klockgether1

  • 1Klinik für Neurologie, Universitätsklinikum Bonn und Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn.

Fortschritte Der Neurologie-Psychiatrie
|February 22, 2023
PubMed
Summary

Gene therapies offer a promising new treatment for currently untreatable genetic and sporadic ataxias, which result from cerebellar degeneration. Research is advancing for conditions like Friedreich

Area of Science:

  • Neuroscience
  • Genetics
  • Medical Research

Context:

  • Ataxias are progressive neurodegenerative diseases primarily affecting the cerebellum.
  • Classified into genetic, sporadic degenerative, and acquired forms.
  • Genetic and sporadic ataxias lack effective medical treatments, unlike acquired forms.

Purpose:

  • To explore the potential of somatic gene therapies for treating genetic and sporadic ataxias.
  • To outline strategies for gene therapy, including gene silencing, replacement, correction, and transfer.
  • To highlight the active development and early-stage clinical trials for common ataxias.

Summary:

  • Somatic gene therapy presents a viable treatment avenue for ataxias.
  • Therapeutic strategies involve modifying gene function to combat cerebellar degeneration.

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  • Key ataxias like Friedreich's ataxia are targets of ongoing gene therapy research and trials.

    • Impact:

    • Gene therapy holds the potential to provide the first effective treatments for debilitating genetic and sporadic ataxias.
    • Advancements in gene therapy could significantly improve patient outcomes and quality of life.
    • Ongoing clinical trials represent a critical step towards translating gene therapy research into clinical practice.