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 Concept Videos

Diabetic Neuropathy01:22

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Major Somatic Sensory Pathways01:28

Major Somatic Sensory Pathways

Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the posterior columns...
Local Anesthetics: Differential Sensitivity of Nerve Fibers01:24

Local Anesthetics: Differential Sensitivity of Nerve Fibers

Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
Overview of Somatic Sensory Pathways01:29

Overview of Somatic Sensory Pathways

Somatic sensory or somatosensory pathways refer to the neural pathways that carry information related to touch, pressure, pain, temperature, and proprioception from the skin, muscles, tendons, and joints to the brain. These pathways involve several stages of processing and integration of sensory information.
The somatosensory system is divided into three main pathways: the dorsal (or posterior) column-medial lemniscus, spinothalamic (or anterolateral), and spinocerebellar pathways.
The dorsal...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...

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

Related Experiment Video

Updated: Jul 6, 2026

Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1
09:39

Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1

Published on: February 13, 2018

Hereditary sensory neuropathy type I.

Michaela Auer-Grumbach1

  • 1Institute of Human Genetics, Graz, Austria. Michaela.Auer-Grumbach@klinikum-graz.at

Orphanet Journal of Rare Diseases
|March 20, 2008
PubMed
Summary

Hereditary sensory neuropathy type I (HSN I) is a rare, progressive neurological disorder causing sensory loss and autonomic issues. Genetic testing of SPTLC1 and RAB7 genes confirms diagnosis for proper genetic counseling and prognosis.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Hereditary sensory neuropathy type I (HSN I) is a rare, slowly progressive neurological disorder.
  • Characterized by distal sensory loss, autonomic disturbances, and autosomal dominant inheritance.
  • Onset typically occurs in the second to fifth decade of life.

Purpose of the Study:

  • To summarize the key features, diagnosis, and management of HSN I.
  • To highlight the genetic basis and differential diagnoses.
  • To emphasize the importance of genetic confirmation for counseling and prognosis.

Main Methods:

  • Clinical observation and family history.
  • Nerve conduction studies to confirm sensory and motor neuropathy.
  • Genetic testing (SPTLC1 and RAB7 gene sequencing) for definitive diagnosis.

More Related Videos

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
03:53

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Related Experiment Videos

Last Updated: Jul 6, 2026

Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1
09:39

Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1

Published on: February 13, 2018

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
03:53

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Main Results:

  • HSN I presents with distal sensory loss, muscle weakness, skin ulcers, and autonomic dysfunction.
  • Complications include fractures, osteomyelitis, necrosis, and neuropathic arthropathy.
  • Genetic heterogeneity exists, with SPTLC1 and RAB7 mutations identified.

Conclusions:

  • Accurate clinical assessment and genetic confirmation are crucial for HSN I diagnosis.
  • Management involves diabetic foot care principles and patient counseling.
  • While not life-limiting, HSN I can be severely disabling over time.