ArticleTherapeutic advances in neurological disorders2021
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study.
Article in Therapeutic advances in neurological disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- [The EAN-NeuPSIG guideline on the diagnosis of neuropathic pain-a summary].Schmerz (Berlin, Germany) · 2026Guideline
- Corneal Confocal Microscopy to Diagnose Peripheral Neuropathy: A Systematic Review and Meta-Analysis.European journal of neurology · 2025Pooled it
- Beyond Pain Intensity: A Patient-Informed Framework for Documenting Burden in Small Fiber Neuropathy.Neurology and therapy · 2026Review
- Culture and gene expression profiling of Schwann cells from human sural nerve.Communications biology · 2026Article
- Skin-resident Langerhans cells drive neuropathic pain via chemokine-dependent neuron-immune communication.The Journal of clinical investigation · 2026Article
- Machine learning-based skin nerve morphometry for diabetic neuropathy: diagnostic and clinical implications.Brain communications · 2026Article
- Blood 1-Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy.Journal of the peripheral nervous system : JPNS · 2025Article
- Small Fiber Morphology and Function in Inclusion Body Myositis-A Multimodal Assessment Including Confocal Corneal Microscopy.European journal of neurology · 2025Article
- Uncovering Hidden Profiles: From Pain-Centric to Multi-Symptom Small Fiber Neuropathy.European journal of neurology · 2025Article
- Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.Biomedicines · 2025Article
- Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis.Pain reports · 2025Article
- [Sequence variants of unknown significance in small fiber neuropathy : Characterization of a heterogeneous patient population].Schmerz (Berlin, Germany) · 2025Article
- Quantitative MRI of dorsal root ganglion alterations in neurofibromatosis type 1 patients with or without pain.European radiology experimental · 2025Article
- Small fiber pathology in fibromyalgia syndrome.Pain reports · 2025Review
- Serum neurofilament light chain levels in patients with small-fiber neuropathy.Journal of neuromuscular diseases · 2024Article
- Idiopathic Distal Sensory Polyneuropathy and Fibromyalgia Syndrome: A Comparative Phenotyping Study.Pain and therapy · 2024Article
- Pain and small fiber pathology in men with fibromyalgia syndrome.Pain reports · 2024Article
- Current Perspectives in Pre- and Diabetic Peripheral Neuropathy Diagnosis and Management: An Expert Statement for the Gulf Region.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
- Serum neurofilament light chain levels in patients with small-fiber neuropathy.Journal of neuromuscular diseases · 2024Article
- Age-dependent small fiber neuropathy: Mechanistic insights from animal models.Experimental neurology · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsSmall fiber neuropathy (SFN) is increasingly suspected in patients with pain of uncertain origin, and making the diagnosis remains a challenge lacking a diagnostic gold standard.
methodsIn this case-control study, we prospectively recruited 86 patients with a medical history and clinical phenotype suggestive of SFN. Patients underwent neurological examination, quantitative sensory testing (QST), and distal and proximal skin punch biopsy, and were tested for pain-associated gene loci. Fifty-five of these patients additionally underwent pain-related evoked potentials (PREP), corneal confocal microscopy (CCM), and a quantitative sudomotor axon reflex test (QSART).
resultsAbnormal distal intraepidermal nerve fiber density (IENFD) (60/86, 70%) and neurological examination (53/86, 62%) most frequently reflected small fiber disease. Adding CCM and/or PREP further increased the number of patients with small fiber impairment to 47/55 (85%). Genetic testing revealed potentially pathogenic gene variants in 14/86 (16%) index patients. QST, QSART, and proximal IENFD were of lower impact.
conclusionWe propose to diagnose SFN primarily based on the results of neurological examination and distal IENFD, with more detailed phenotyping in specialized centers.
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