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Page 1
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic neuropathy (HSAN). ...
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory neuropathies and, if autonomic …
Familial dysautonomia.
González-Duarte A, Cotrina-Vidal M, Kaufmann H, Norcliffe-Kaufmann L. González-Duarte A, et al. Clin Auton Res. 2023 Jun;33(3):269-280. doi: 10.1007/s10286-023-00941-1. Epub 2023 May 19. Clin Auton Res. 2023. PMID: 37204536 Review.
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. ...Neurogenic dysphagia causes frequent aspiratio …
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropath …
Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.
Ashwin DP, Chandan GD, Jasleen HK, Rajkumar GC, Rudresh KB, Prashanth R. Ashwin DP, et al. Oral Maxillofac Surg. 2015 Jun;19(2):117-23. doi: 10.1007/s10006-015-0486-5. Epub 2015 Mar 6. Oral Maxillofac Surg. 2015. PMID: 25744033 Review.
Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorder which is characterized by a decrease in the number of myelinated and non-myelinated nerve fibers of peripheral nerves which causes diminis …
Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorde …
Hereditary sensory and autonomic neuropathies.
Auer-Grumbach M. Auer-Grumbach M. Handb Clin Neurol. 2013;115:893-906. doi: 10.1016/B978-0-444-52902-2.00050-3. Handb Clin Neurol. 2013. PMID: 23931820 Review.
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. ...Autosomal domin …
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous dis …
The DST gene in neurobiology.
Lalonde R, Strazielle C. Lalonde R, et al. J Neurogenet. 2023 Sep-Dec;37(4):131-138. doi: 10.1080/01677063.2024.2319880. Epub 2024 Mar 11. J Neurogenet. 2023. PMID: 38465459 Review.
DST is a gene whose alternative splicing yields epithelial, neuronal, and muscular isoforms. The autosomal recessive Dst(dt) (dystonia musculorum) spontaneous mouse mutation causes degeneration of spinocerebellar tracts as well as peripheral sensory nerves, d …
DST is a gene whose alternative splicing yields epithelial, neuronal, and muscular isoforms. The autosomal recessive Dst(dt) ( …
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications.
Kim W, Guinot A, Marleix S, Chapuis M, Fraisse B, Violas P. Kim W, et al. Orthop Traumatol Surg Res. 2013 Nov;99(7):881-5. doi: 10.1016/j.otsr.2013.05.006. Epub 2013 Sep 23. Orthop Traumatol Surg Res. 2013. PMID: 24070693 Free article. Review.
Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and m …
Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessiv …
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.
Capsoni S. Capsoni S. Eur J Neurosci. 2014 Feb;39(3):392-400. doi: 10.1111/ejn.12461. Eur J Neurosci. 2014. PMID: 24494679 Review.
Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disorder characterized by the loss of deep pain perception. The anomalous pain and temperature sensations are due to the absence of nociceptive …
Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disor …
Hereditary sensory neuropathies.
Auer-Grumbach M. Auer-Grumbach M. Drugs Today (Barc). 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. Drugs Today (Barc). 2004. PMID: 15319794 Review.
Hereditary sensory neuropathies (HSNs) are a group of genetically determined peripheral neuropathies with prominent disturbance of the peripheral sensory neurons. ...However, at least one more hitherto unknown gene responsible for autosomal …
Hereditary sensory neuropathies (HSNs) are a group of genetically determined peripheral neuropathies with promin …
Animal and cellular models of familial dysautonomia.
Lefcort F, Mergy M, Ohlen SB, Ueki Y, George L. Lefcort F, et al. Clin Auton Res. 2017 Aug;27(4):235-243. doi: 10.1007/s10286-017-0438-2. Epub 2017 Jun 30. Clin Auton Res. 2017. PMID: 28667575 Free PMC article. Review.
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as …
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made …
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E. Parman Y, et al. Handb Clin Neurol. 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. Handb Clin Neurol. 2013. PMID: 23931818 Review.
Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. ...At least 15 genes and six loci have been found to be associated with autosomal recessive CMT (AR-CMT) and X-linked CMT (AR-CMTX) and also distal heredi …
Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. ...At least 15 genes and six lo …
44 results