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Autosomal recessive hereditary sensory and autonomic neuropathy

MedGen UID:
1842234
•Concept ID:
C5680675
•
Disease or Syndrome
Orphanet: ORPHA140477

Professional guidelines

PubMed

Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia.
Zlotnik A, Natanel D, Kutz R, Boyko M, Brotfain E, Gruenbaum BF, Gruenbaum SE, Bodner L
Anesth Analg 2015 Nov;121(5):1316-20. doi: 10.1213/ANE.0000000000000912. PMID: 26484462Free PMC Article
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V
Brain 2009 Oct;132(Pt 10):2699-711. Epub 2009 Aug 3 doi: 10.1093/brain/awp198. PMID: 19651702Free PMC Article
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
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
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
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
Oral Maxillofac Surg 2015 Jun;19(2):117-23. Epub 2015 Mar 6 doi: 10.1007/s10006-015-0486-5. PMID: 25744033
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article
Hereditary sensory neuropathies.
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794

Diagnosis

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
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
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
Oral Maxillofac Surg 2015 Jun;19(2):117-23. Epub 2015 Mar 6 doi: 10.1007/s10006-015-0486-5. PMID: 25744033
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article
Hereditary sensory neuropathies.
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794

Therapy

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.
Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H
Sleep 2017 Aug 1;40(8) doi: 10.1093/sleep/zsx083. PMID: 28521050Free PMC Article
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia.
Zlotnik A, Natanel D, Kutz R, Boyko M, Brotfain E, Gruenbaum BF, Gruenbaum SE, Bodner L
Anesth Analg 2015 Nov;121(5):1316-20. doi: 10.1213/ANE.0000000000000912. PMID: 26484462Free PMC Article
Hereditary sensory autonomic neuropathy Type IV.
Dua T, Sharma J, Singhal T, Arya VB
Indian Pediatr 2005 Mar;42(3):281-4. PMID: 15817982
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.
Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM
Paediatr Anaesth 2004 Apr;14(4):344-8. doi: 10.1046/j.1460-9592.2003.01235.x. PMID: 15078381

Prognosis

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I
Brain 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. PMID: 37769650Free PMC Article
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Zimmermann M, Deininger N, Willikens S, Haack TB, Grundmann-Hauser K, Streubel B, Schreiber M, Lerche H, Grimm A
Neurol Sci 2021 Apr;42(4):1523-1525. Epub 2020 Nov 13 doi: 10.1007/s10072-020-04896-3. PMID: 33188503Free PMC Article
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG
Hum Mutat 2017 Jan;38(1):55-63. Epub 2016 Nov 26 doi: 10.1002/humu.23123. PMID: 27676246Free PMC Article
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article

Clinical prediction guides

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I
Brain 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. PMID: 37769650Free PMC Article
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.
Spiteri M, Mifsud M, Azzopardi T, Giele H
Hand (N Y) 2022 Jan;17(1):155-161. Epub 2020 Mar 6 doi: 10.1177/1558944720906556. PMID: 32141314Free PMC Article
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818
Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M
Eur J Hum Genet 2006 Feb;14(2):249-52. doi: 10.1038/sj.ejhg.5201537. PMID: 16333315

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