ReviewNature reviews. Neurology2012
Mechanisms of disease in hereditary sensory and autonomic neuropathies.
Review in Nature reviews. Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
85 citing papers in PubMed.
- Suspected hereditary sensory and autonomic neuropathies: clinical signs and electrodiagnostic findings in eleven dogs.Journal of veterinary internal medicine · 2026Article
- Lipid alterations in hereditary peripheral neuropathies: common mechanisms in disease heterogeneity?Molecular neurodegeneration · 2026Review
- Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.Frontiers in neural circuits · 2026Article
- Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.Brain sciences · 2025Article
- Article
- A call to action for peripheral neuropathy research funding-Time to consolidate funding under one NIH initiative?Journal of the peripheral nervous system : JPNS · 2025Article
- Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self-Injury Complications in a 5-Year-Old Boy: A Case Report.Clinical case reports · 2024Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- Age-dependent small fiber neuropathy: Mechanistic insights from animal models.Experimental neurology · 2024Review
- Generation of Functional and Mature Sympathetic Neurons from Human Pluripotent Stem Cells via a Neuroepithelial Route.Journal of molecular neuroscience : MN · 2024Article
- Autoimmune Autonomic Neuropathy: From Pathogenesis to Diagnosis.International journal of molecular sciences · 2024Review
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.Paediatrics & child health · 2023Article
- Recent Development of Advanced Fluorescent Molecular Probes for Organelle-Targeted Cell Imaging.Biosensors · 2023Review
- A rare case of hereditary sensory and autonomic neuropathy type II.Clinical case reports · 2023Article
- Role of tubulin post-translational modifications in peripheral neuropathy.Experimental neurology · 2023Review
- Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy.Journal of diabetes and its complications · 2023Article
- SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain.Journal of veterinary internal medicine · 2023Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic neurons, is the main pathological feature in patients with HSAN, and causes prominent sensory loss and ulcerative mutilations in combination with variable autonomic and motor disturbances. Advances in molecular genetics have enabled identification of disease-causing mutations in 12 genes, and studies on the functional effects of these mutations are underway. Although some of the affected proteins--such as nerve growth factor and its receptor--have obvious nerve-specific roles, others are ubiquitously expressed proteins that are involved in sphingolipid metabolism, vesicular transport, transcription regulation and structural integrity. An important challenge in the future will be to understand the common molecular pathways that result in HSANs. Unraveling the mechanisms that underlie sensory and autonomic neurodegeneration could assist in identifying targets for future therapeutic strategies in patients with HSAN. This Review highlights key advances in the understanding of HSANs, including insights into the molecular mechanisms of disease, derived from genetic studies of patients with these disorders.
Indexed as
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.