ArticleNeurology2017
Novel mutations in
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In one paragraph
Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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0cells of the map it votes in
23citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
What it found
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.Frontiers in neural circuits · 2026Article
- Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.Human genome variation · 2025Article
- Hereditary sensory autonomic neuropathy type VI in the age of genetic testing.Annals of the Child Neurology Society · 2024Article
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- Homozygosity for a RareInternational journal of molecular sciences · 2024Article
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Towards bridging the translational gap by improved modeling of human nociception in health and disease.Pflugers Archiv : European journal of physiology · 2022Review
- Article
- Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity.Pathophysiology : the official journal of the International Society for Pathophysiology · 2022Review
- Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.Investigative ophthalmology & visual science · 2022Review
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.Neurology. Genetics · 2021Article
- Contribution of Skin Biopsy in Peripheral Neuropathies.Brain sciences · 2020Review
- Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.Neurology. Genetics · 2020Article
- Diverse dystonin gene mutations cause distinct patterns ofDisease models & mechanisms · 2020Article
- Review
- HSAN-VI: A spectrum disorder based on dystonin isoform expression.Neurology. Genetics · 2020Article
- Novel Compound HeterozygousFrontiers in genetics · 2020Article
- Induced pluripotent stem cells for disease modeling, cell therapy and drug discovery in genetic autonomic disorders: a review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 2 countries.
Fiore ManganelliFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Silvia ParisiFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Maria NolanoFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Feifei TaoFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Simona PaladinoFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Chiara PisciottaFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Stefano TozzaFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Claudia NestiFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Adriana P RebeloFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Vincenzo ProviteraFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Filippo M SantorelliFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Michael E ShyFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Tommaso RussoFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Stephan ZuchnerFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
Lucio SantoroFrom the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., S.T., L.S.) and Department of Molecular Medicine and Medical Biotechnologies (S. Parisi, S. Paladino, T.R.), University of Naples "Federico II"; Neurology Department (M.N., V.P.), "Salvatore Maugeri" Foundation IRCCS-Medical Center of Telese, Telese Terme, Italy; Department of Human Genetics and Hussman Institute for Human Genomics (F.T., A.P.R., S.Z.), Miller School of Medicine, University of Miami, FL; Molecular Medicine Laboratory (C.N., F.M.S.), Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy; and Department of Neurology (M.E.S.), University of Iowa Carver College of Medicine, Iowa City. lusantor@unina.it.
Fondazione Stella Maris · ITUniversity of Miami · USFondazione Salvatore Maugeri · IT
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MGenomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0MNINDS NIH HHS R01 NS075764NINDS NIH HHS U54 NS065712
Abstract
objectiveTo describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (
methodsThe family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous innervation and to get fibroblast cultures for developing iPSC-derived neurons.
resultsOnset occurred in the first decade, with painless and progressive mutilating distal ulcerations leading to amputation and joint deformity. Sensation to pain, touch, and vibration was reduced. Autonomic disturbances included hypohidrosis, pupillary abnormalities, and gastrointestinal and sexual dysfunction. Nerve conduction studies showed a severe axonal sensory neuropathy. QST and autonomic functional studies were abnormal. Skin biopsy revealed a lack of sensory and autonomic nerve fibers. Genetic analysis revealed 2 pathogenic mutations in the
conclusionsUnlike the previous HSAN-VI family, our description indicates that
Indexed as
MutationAdultDystoninHereditary Sensory and Autonomic NeuropathiesHeterozygoteHumansInduced Pluripotent Stem CellsMaleMiddle AgedNeuronsRNA, MessengerSiblingsDST protein, humanDystoninRNA, Messenger
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