ReviewNeuromolecular medicine2006
Molecular genetics of hereditary sensory neuropathies.
Review in Neuromolecular medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Who cites it
19 citing papers in PubMed, 52 citations in OpenAlex.
- A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.Human genome variation · 2025Article
- Autoimmune Autonomic Neuropathy: From Pathogenesis to Diagnosis.International journal of molecular sciences · 2024Review
- Unanticipated domain requirements for Drosophila Wnk kinase in vivo.PLoS genetics · 2023Article
- Novel Gross Deletion Mutations inFrontiers in pediatrics · 2021Article
- Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.Anesthesia progress · 2018Article
- Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?International journal of molecular sciences · 2017Review
- WNK Kinases in Development and Disease.Current topics in developmental biology · 2017Review
- The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.Cell cycle (Georgetown, Tex.) · 2015Article
- NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.European journal of medical genetics · 2015Article
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Journal of neurology · 2014Article
- Pharmacogenetics of analgesic drugs.British journal of pain · 2013Article
- Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).PLoS genetics · 2013Article
- Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.PLoS genetics · 2010Article
- Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.The Journal of biological chemistry · 2010Article
- Not all neuropathy in diabetes is of diabetic etiology: differential diagnosis of diabetic neuropathy.Current diabetes reports · 2009Review
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Brain : a journal of neurology · 2009Article
- Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.
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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.