Daniele Cazzato1, Giuseppe Lauria. 1. Department of Clinical Neurosciences, 3rd Neurology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Laboratory, IRCCS Foundation, 'Carlo Besta' Neurological Institute, Milan, Italy.
Abstract
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss. The clinical reliability of skin biopsy has been strengthened by the availability of normative values for both the immunohistochemistry techniques used and their comparison, and by side and short-term follow-up analyses. Corneal confocal microscopy has implemented its diagnostic potentiality because of the availability of age-adjusted and sex-adjusted normative values. Genetic studies expanded the panel on genes involved in SFN because of the discovery of new mutations in SCN10A and SCN11A, besides the first found in SCN9A, and identification of mutations in COL6A5 in patients with itching. SUMMARY: In the last 5 years, the chapter of SFN has been widened by new clinical and genetics descriptions leading to a more comprehensive approach to patients in clinical practice and research.
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss. The clinical reliability of skin biopsy has been strengthened by the availability of normative values for both the immunohistochemistry techniques used and their comparison, and by side and short-term follow-up analyses. Corneal confocal microscopy has implemented its diagnostic potentiality because of the availability of age-adjusted and sex-adjusted normative values. Genetic studies expanded the panel on genes involved in SFN because of the discovery of new mutations in SCN10A and SCN11A, besides the first found in SCN9A, and identification of mutations in COL6A5 in patients with itching. SUMMARY: In the last 5 years, the chapter of SFN has been widened by new clinical and genetics descriptions leading to a more comprehensive approach to patients in clinical practice and research.
Authors: N Strand; C Wie; J Peck; M Maita; N Singh; J Dumbroff; V Tieppo Francio; M Murphy; K Chang; D M Dickerson; J Maloney Journal: Curr Pain Headache Rep Date: 2022-04-06
Authors: Roy Freeman; Jennifer S Gewandter; Catharina G Faber; Christopher Gibbons; Simon Haroutounian; Giuseppe Lauria; Todd Levine; Rayaz A Malik; J Robinson Singleton; A Gordon Smith; Josh Bell; Robert H Dworkin; Eva Feldman; David N Herrmann; Ahmet Hoke; Noah Kolb; Heikki Mansikka; Anne Louise Oaklander; Amanda Peltier; Michael Polydefkis; Elissa Ritt; James W Russell; Stephen Sainati; Deborah Steiner; Roi Treister; Nurcan Üçeyler Journal: Neurology Date: 2020-10-14 Impact factor: 9.910
Authors: Margot Geerts; Bianca T A de Greef; Maurice Sopacua; Sander M J van Kuijk; Janneke G J Hoeijmakers; Catharina G Faber; Ingemar S J Merkies Journal: Neurology Date: 2021-03-25 Impact factor: 9.910