Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hereditary sensory neuropathies.

Michaela Auer-Grumbach1

  • 1Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria. michaela.auergrumbach@meduni-graz.at

Drugs of Today (Barcelona, Spain : 1998)
|August 21, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.

Journal of clinical medicine·2026
Same author

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

Nature communications·2026
Same author

Impact of disease-modifying therapy on [<sup>99m</sup>Tc]Tc-DPD SPECT/CT markers in transthyretin cardiac amyloidosis enabled by artificial intelligence.

European journal of nuclear medicine and molecular imaging·2025
Same author

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

medRxiv : the preprint server for health sciences·2025
Same author

His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

Journal of clinical medicine·2025
Same author

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Brain : a journal of neurology·2023
Same journal

Monoclonal antibodies for treatment of osteoporosis.

Drugs of today (Barcelona, Spain : 1998)·2023
Same journal

Tebentafusp: a novel drug for the treatment of metastatic uveal melanoma.

Drugs of today (Barcelona, Spain : 1998)·2023
Same journal

Sugemalimab, a novel PD-L1 inhibitor for treatment of advanced or metastatic non-small cell lung cancer.

Drugs of today (Barcelona, Spain : 1998)·2023
Same journal

Secukinumab, ixekizumab, bimekizumab and brodalumab for psoriasis and psoriatic arthritis.

Drugs of today (Barcelona, Spain : 1998)·2023
Same journal

Mitapivat for sickle cell disease and thalassemia.

Drugs of today (Barcelona, Spain : 1998)·2023
Same journal

Cenegermin for the treatment of dry eye disease.

Drugs of today (Barcelona, Spain : 1998)·2023
See all related articles

Hereditary sensory neuropathies (HSNs) are genetic disorders affecting sensory neurons, causing pain insensitivity and complications like amputations. Genetic research advances diagnosis and counseling for these rare diseases.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Hereditary sensory neuropathies (HSNs) are a group of genetic disorders characterized by sensory neuron dysfunction.
  • Clinical manifestations include sensory loss, pain insensitivity, muscle weakness, and autonomic dysfunction.
  • Complications such as foot ulcerations, infections, and amputations are common, leading to the term 'ulceromutilating neuropathies'.

Purpose of the Study:

  • To review the genetic basis of hereditary sensory neuropathies.
  • To highlight recent molecular discoveries and their clinical implications.
  • To discuss the potential for improved diagnosis, genetic counseling, and future research.

Main Methods:

  • Literature review of genetic studies on hereditary sensory neuropathies.

Related Experiment Videos

  • Analysis of identified genes and their associated HSN subtypes.
  • Discussion of clinical relevance and future research directions.

    • Main Results:

    • Identified genes for autosomal dominant HSN I (SPTLC1) and CMT 2b (RAB7).
    • Identified genes for autosomal recessive HSN III, IV, and V (IKBKAP, NTRK1).
    • Recent identification of the gene for HSN II (HSN2) and a mutation in Cct4 in rats.

    Conclusions:

    • Molecular genetic advances are crucial for understanding HSNs.
    • These discoveries facilitate improved diagnosis and genetic counseling.
    • Further research is needed for functional studies and potential therapeutic strategies.