Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant.

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Title: Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant.
Authors: Masciarelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Dell'Aversana D; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Vitale F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Ciccarelli G; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Micale L; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Morlino S; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Caporaso G; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy., Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy., Provitera V; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy., Castori M; Division of Medical Genetics and Inborn Errors of Morphogenesis Research Unit, Fondazione IRCCS-Casa Sollievo Della Sofferenza, Viale Cappuccini Snc, 71013, San Giovanni Rotondo (FG), Italy., Nolano M; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, 80131, Naples, Italy. maria.nolano@unina.it.; Istituti Clinici Scientifici Maugeri IRCCS, Skin Biopsy Lab, Neurological Rehabilitation Unit of Telese Terme Institute, 82037, Telese Terme, Benevento, Italy. maria.nolano@unina.it.
Source: Clinical autonomic research : official journal of the Clinical Autonomic Research Society [Clin Auton Res] 2026 Jun 15. Date of Electronic Publication: 2026 Jun 15.
Publication Type: Letter
Journal Info: Publisher: Steinkopff Country of Publication: Germany NLM ID: 9106549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1619-1560 (Electronic) Linking ISSN: 09599851 NLM ISO Abbreviation: Clin Auton Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1619-1560
DOI:10.1007/s10286-026-01225-0