Results 11 to 20 of about 5,298 (208)

113 Clinical and neurophysiological improvement in Hereditary sensory and autonomic neuropathy type I (HSAN-1) following high dose serine therapy [PDF]

Poster abstracts, 2021
Objective To report clinical stabilisation and improved summated compound motor action potentials (CMAP) in a patient with Hereditary sensory and autonomic neuropathy type I (HSAN-1) following high dose serine therapy.
James Triplett, Garth A. Nicholson, Con Yiannikas   +2 more
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Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Annals of the Child Neurology Society
Background Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven G. Pavlakis, Alexandra Reznikov   +5 more
doaj   +2 more sources

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI [PDF]

Human Mutation, 2018
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders, characterized by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement ...
Paola Fortugno, Francesco Angelucci, Gianluca Cestra, Letizia Camerota, Angelo Salvatore Ferraro, Sonia Cordisco, Luigi Uccioli, Daniele Castiglia, Barbara De Angelis, Ingo Kurth, Uwe Kornak, Francesco Brancati   +11 more
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Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I [PDF]

Neurology: Genetics, 2019
Hereditary sensory and autonomic neuropathy type 1 (HSAN-I)—an autosomal dominant, mainly sensory neuropathy—typically affects patients in their second and third decades, presenting with ulcerations and lancinating pain attacks.1 Diagnosis is heavily ...
Federica Boso, Andrea Armirotti, Federica Taioli, Moreno Ferrarini, Lucilla Nobbio, Tiziana Cavallaro, Gian Maria Fabrizi   +6 more
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HSAN-VI [PDF]

Neurology: Genetics, 2020
Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1).
Anisha Lynch‐Godrei, Rashmi Kothary
openalex   +2 more sources

A Comprehensive Functional Analysis ofNTRK1Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) [PDF]

Human Mutation, 2016
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is an autosomal recessive disorder characterized by a complete lack of pain perception and anhidrosis.
Samiha S. Shaikh, Ya‐Chun Chen, Sally‐Anne Halsall, Michael S. Nahorski, Kiyoyuki Omoto, Gareth T. Young, Anne M. Phelan, C. Geoffrey Woods   +7 more
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Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI [PDF]

Neurology, 2017
Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana Rebelo, Vincenzo Provitera, Filippo M. Santorelli, Michael E. Shy, Tommaso Russo, Stephan Züchner, Lucio Santoro   +14 more
openalex   +2 more sources

Unraveling the distinct motion bias of TrkA-NGF complex in NGF ^R100W -driven HSAN V disease

bioRxiv
Nerve growth factor (NGF), which binds to tropomyosin-related kinase A (TrkA) receptor, plays essential roles in neuronal survival and function and is also a potent mediator of pain sensation.
Zahed Bin Rahim, Md Abul Bashar, Nayan Dash, S. Paul, Rimsha Ziad, Sarmistha Mitra, Raju Dash   +6 more
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Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness [PDF]

Immunity, 2019
Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz‐Wagenblatt, Vincent Timmerman, Nathalie Bonello‐Palot, Beate Schlotter‐Weigel, Michaela Auer‐Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiß, Eric Y. Mah, Nina Weisshaar, Alaa Madi, Kerstin Möhr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeister, Britta Brügger, Michael Schmitt, Guido Wabnitz, Yvonne Samstag, Guoliang Cui   +27 more
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Hsan type VII in a family from northeastern brazil

Arquivos de Neuro-Psiquiatria
Case presentation: In 2016, a 65 year-old man sought medical attention due to severe sensory loss in distal lower and upper extremities.According to him, it started back in his childhood, when working in plantations he would often get hurt without ...
Mariana Alcântara Tavares, Lívio Leite Barros, Nayana Freire de Almeida Fontes, Leonardo Elias Araujo dos Santos, Francisco de Assis Aquino Gondim   +4 more
openalex   +2 more sources