ArticleBrain : a journal of neurology2009
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Article in Brain : a journal of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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Who cites it
70 citing papers in PubMed, 165 citations in OpenAlex.
- Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.The Journal of clinical investigation · 2011Trial
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- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings.Journal of molecular neuroscience : MN · 2024Article
- A New Phase for WNK Kinase Signaling Complexes as Biomolecular Condensates.Physiology (Bethesda, Md.) · 2024Review
- Functional and Molecular Characterization of NewGenes · 2024Article
- Identification of novel mutations inHeliyon · 2024Article
- Recent updates in autonomic research: orthostatic hypotension and cognitive function in Parkinson disease and multiple system atrophy, the skin as a window into synuclein pathology, and RFC1 repeat expansions in hereditary sensory autonomic neuropathies.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Article
- Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBBiomolecules · 2023Article
- Associations among hearing loss, multiple co-occurring symptoms, and quality of life outcomes in cancer survivors.Journal of cancer survivorship : research and practice · 2023Article
- The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.Neuropathology and applied neurobiology · 2022Article
- SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.The Journal of clinical investigation · 2022Article
- PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.Biological psychiatry · 2022Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Multi-typeFrontiers in neurology · 2022Article
- Modeling neuromuscular diseases in zebrafish.Frontiers in molecular neuroscience · 2022Review
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.Journal of neurology, neurosurgery, and psychiatry · 2021Article
- Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.Journal of the neurological sciences · 2021Article
- Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions.Nature communications · 2021Article
10 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 7 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene NGFR (p75/NTR) encoding the nerve growth factor receptor. We identified disease-causing mutations in SPTLC1, RAB7, WNK1/HSN2 and NTRK1 in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations. In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in NGFB, CCT5 and NGFR. Overall disease-associated mutations were found in 19% of the studied patient group, suggesting that additional genes are associated with HSAN. Our genotype-phenotype correlation study broadens the spectrum of HSAN and provides additional insights for molecular and clinical diagnosis.
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