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Dziedziczne neuropatie czuciowe i autonomiczne – patogeneza, klinika i leczenie. Część II: typy II, IV i V

Franciszek Seneczko

DOI: https://doi.org/10.26625/2017.10.3.01

Abstrakt


Należące do grupy neuropatii czuciowych i autonomicznych (HSAN) typy II, IV i V wykazują zróżnicowania genetyczne, anatomiczne, fi zjologiczne oraz dotyczące obrazów klinicznych. Istotę HSAN2 stanowi głównie upośledzenie funkcji neuronów obwodowych; czuciowych i autonomicznych. Objawy kliniczne rozwijają się w okresie noworodkowym lub we wczesnym dzieciństwie. Również w dzieciństwie ujawnia się HSAN4, ze względu na dominujące objawy zwana także wrodzoną obojętnością na ból z anhydrozą. Z kolei HSAN5, klasyfi kowana jako obojętność na ból z częściową anhydrozą, wykazuje objawy kliniczne podobne do występujących w HSAN4, ale o łagodniejszym przebiegu.

Słowa kluczowe


HSAN2; HSAN4; HSAN5; choroby demielinizacyjne; wrodzona niewrażliwość na ból, nawracające owrzodzenia; czynnik wzrostu nerwów; anhydroza

Pełny tekst:

Bibliografia


Ali N., Sharma S., Sharma S., Kamal Y., Sharma S.: Congenital insensitivity to pain with anhidrosis (HSAN Type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report. Iran J Pediatr 2012; 22 (4): 559-563.

Amano A., Akiyama S., Ikeda M., Morisaki I.: Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998; 86 (4): 425-431.

Amano S., Fukuoka S., Usui T., Honda N., Ideta R., Ochiai M. i wsp.: Ocular manifestations of congenital insensitivity to pain with anhidrosis. Am J Ophthalmol 2006; 141 (3): 472-477.

Andersen H., Arendt-Nielsen L., Svensson P., Danneskiold-Samsoe B., Graven-Nielsen T.: Spatial and temporal aspects of muscle hyperalgesia induced by nerve growth factor in humans. Exp Brain Res 2008; 191 (3): 371-382.

Armstrong D.G., Todd W.F., Laery L.A., Harkless L.B., Bushman T.R.: Th e natural history of acute Charcot’s arthropathy in a diabetic foo speciality clinic. Diabet Med 1997; 14 (5): 357-363.

Axelrod F.B.: Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. Clin Auton Res 2002; 12 (Suppl. 1): 12-14.

Axelrod F.B., Gold-von Simson G.: Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis 2007; 2: 39.

Axelrod F.B., Pearson J.: Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Chil 1984; 138 (10): 947-954.

Azadvari M., Emami Razavi S.Z., Kazemi S.: Hereditary sensory and autonomic neuropathy type IV in 9 year old boy: a case report. Iran J Child Neurol 2016; 10 (2): 83-85.

Bar-On E., Weigl D., Parvari R., Katz K., Weitz R., Steinberg T.: Congenital insensitivity to pain. Orthopaedic

manifestations. J Bome Joint Surg Br 2002, 84 (2): 252-257.

Bodner L., Woldenberg Y., Pinsk V., Levy J.: Orofacial manifestations of nongenital insensitivity to pain with anhidrosis: a report of 24 cases. ASDC J Dent Child 2002; 69 (3): 293-296.

Bondowsky J.L., Johnson J., Carey J.C., Smith A.G., Swoboda K.J.: An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 2003; 112 (3 Pt 1): 237-241.

Brown M.C., Perry V.H., Lunn E.R., Gordon S., Heumann R.: Macrophage dependence of peripheral sensory nerve regeneration: possible involvement of nerve growth factor. Neuron 1991; 6 (3): 359-370.

Brown A., Ricci M.J., Weaver L.C.: Ngf message andprotein distribution in the injured rat spinal cord. Wxp Neurol 2004; 188 (1): 115-127.

Butler J., Fleming P., Webb D.: Congenital insensitivity to pain – review and report of a case with dental implications.

Oral Surg Oral Med, Oral Pathol Oral Radiol Endod 2006; 101 (1): 58-62.

Carvalho O.P., Th ornton G.K., Hertecant J., Houlden H., Nicholas A.K., Cox J.J. i wsp.: A novel NGF mutation clarifi es the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet 2011; 48 (2): 131-135.

Chao M.V., Hempstead B.L.: P75 and Trk: a two-receptor system. Trends Neurosci 1995; 18 (7): 321-326.

Cho H.J., Kim B.J., Suh Y.L., An J.Y., Ki C.S.: Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. J Hum Genet 2006; 51 (10): 905-908.

Coen K., Pareyson D., Auer-Grumbach M., Buyse G., Goemans N., Claeys K.G. i wsp.: Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006; 66 (5): 748-751.

Cusumano F.J., Penna K.J., Panossian G.: Prevention of self-mutilation in patients with Lesch-Nyhan syndrome: review of literature. ASDC J Dent Chil 2001; 68 (3): 175-178.

Daneshjou K., Jafarieh H., Raaeskarami S.R.: Congenital insensitivity to pain and anhydrosis (CIPA) syndrome: a report of 4 ases. Iran J Pediatr 2012; 2 (3): 412-416.

Davidson G., Murphy S., Polke J., Laura M., Salih M., Muntoni F. i wsp.: Fraquency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol 2012; 259 (8): 1673-1685.

de Andrade D.C., Baudic S., Attal N., Rodrigues C.L., Caramelli P., Lino A.M., Marchiori P.E., Okada M., Scaff M., Bouhassira D., Teixeira M.J.: Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: congitive evaluation. Eur J Neurol 2008; 15 (7): 712-719.

Delaloy C., Hadchouel J., Imbert-Teboul M., Clemessy M., Houot A.M., Jeunemaitre X.: Cardiovascular wxpression of the mouse WNK1 gene during development and adulthood revealed by a BAC receptor assay. Am J Pathol 2006; 169 (1): 105-118.

Delaloy C., Lu J., Houot A.M., Disse-Nicodeme S., Gasc J.M., Corvol P. i wsp.: Multiple promoters in the WNK1 gene: one controls expression of a kidney-specifi c kinase-defective isoform. Mol Cell Biol 2003; 23 (24): 9208-9221.

Dietrich P., Dragatsis I.: Familial dysautonomia: mechanisms and models. Genet Mol Biol 2016; 39 (4): 497-514.

Einarsdottir E., Carisson A., Minde J., Toolanen G., Svensson O., Solders G. i wsp.: A mutation in the nerve growth factor beta gene (NGFβ) causes loss of pain perception. Hum Mol Genet 2004; 13 (8): 799-805.

Ellaithi M., Gisselsson D., Nilsson T., Alagib A., Fadl--Elmula I., Abdelgadir M.: A case of Cornelia de Lange syndrome from Sudan. BMC Pediatr 2007; 7: 6.

English K.B., Harper S., Stayner N., Wang Z.M., Davies A.M.: Localization of nerve growth factor (NGF) andlow-affi nity NGF receptors in touch domes and quantifi cation of NGF mRNA in keratinocytes of adult rats. J Comp Neurol 1994; 344 (3): 470-480.

Esmer C., Diaz Zambrano S., Santos Diaz M.A., González Huerta L.M., Cuevas Covarrubias S.A., Bravo Oro A.: Hereditary sensory and autonomic neuropathy type II A: early neurological and skeletal fi ndings. An Pediatr (Barc) 2014; 80 (4): 254-258.

Ferriére G., Guzzetta F., Kulakowski S., Evrard P.: Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity. J Child Neurol 1992; 7 (4): 364-370.

Frade J.M., Barde Y.A.: Nerve growth factor: two receptors, multiple functions. Bioessays 1998; 20 (2): 137-145.

Gao L., Guo H., Ye N., Bai Y., Liu X., Yu P. i wsp.: Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identifi ed in the patient with congenital insensitivity to pain with anhidrosis. PLoS One 2013; 8 (6): e66863.

Gupta B.: Congenital insensitivity of pain with anhidrosis. Indian J Pediatr 2003; 70 (1): 109-111.

Haga N., Kubota M., Miwa Z.: Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. Am J Med Genet A 2013; 161A (4): 871-874.

Hegde R.J.: Sublingual traumatic ulcration due to neonatal teeth (Riga-Fede disease). J Indian Soc Pedod Prev Dent 2005; 23 (1): 51-52.

Hein R.: Choroby psychiczne i neurologiczne, [w:] Burgdorf W.H.C., Plewig G., Wolff H.H., Landthaler M.: Braun-Falco Dermatologia. W. Gliński, M. Czarnecka Operacz, D. Krasowska, A.B. Serwin, H. Wolska (red.), wyd. II polskie. Wyd. Czelej, Lublin 2010: 1212-1221.

Hilz M.J.: Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002; 12 (Suppl. 1): 133-143.

Houlden H., King R.H., Hashemi-Nejad A., Wood N.W., Mathias C.J., Reilly M. i wsp.: A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol 2001; 49 (4): 521-525.

Høyer H., Busk Ø.L., Holla Ø.L., Strand L., Russell M.B., Skjelbred C.F. i wsp.: Hereditary peripheral neuropathies diagnosed by next-generation sequencing. Tidsskr Nor Laegeforen 2015; 135 (20): 1838-1844.

Huang E.J., Reichardt L.F.: Trk receptors: roles in neuronal signal transduction. Ann Rev Biochem 2003; 72: 609-642.

Indo Y.: Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat 2001; 18 (6): 462-471.

Indo Y.: Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic

neuropathy type IV. Clinical, biological and molecular espects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res 2002; 12 (Suppl. 1): 120-132.

Indo Y., Mardy S., Miura Y., Moosa A., Ismail E.A., Toscano E. i wsp.: Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase defi ciency. Hum Mutat 2001; 18 (4): 308-318.

Indo Y., Tsuruta M., Hayashida Y., Karim M.A., Ohta K., Kawano T. i wsp.: Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996; 13 (4): 485-488.

Ismail E.A., Al-Shammari N., Anim J.T., Moosa A.: Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confi rmed. J Child Neurol 1998; 13 (5): 243-246.

Jacob A., Sarada C., Th omas S.V.: Painless injures in a child: Hereditary sensory and autonomic neuropathy. Ann Indian Acad Neurol 2006; 9: 39-41.

Jarade E.F., El-Sheikh H.F., Tabbara K.F.: Indolent corneal ulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literaturę review. Eur J Ophthalmol 2002; 12 (1): 60-65.

Jathar P., Panse A.M., Jathar M., Gawali P.N.: Lesch-Nyhan syndrome: disorder of self-mutilating behaviour. Int J Clin Pediatr Dent 2016; 9 (2): 139-142.

John D., Th omas M., Jacob P.: Neurotrophic keratitis and congenital insensitivity to pain with anhidrosis – a case report with 10-year follow-up. Cornea 2011; 30 (1): 100-102.

Kahle K.T., Ring A.M., Lifton R.P.: Molecular physiology of the WNK kinases. Ann Rev Physiol 2008; 70: 329-355.

Kalaskar R., Kalaskar A.: Hereditary sensory and autonomic neuropathy type V: report of a rare case. Contemp Clin Dent 2015; 6 (1): 103-106.

Kaplan D.R., Hempstead B.L., Martin-Zanca D., Chao M.V., Parada L.F.: Th e TRK proto-oncogene product: a signal transducing receptor for nerve growth factor. Science 1991; 252 (5005): 554-558.

Kaplan D.R., Miller F.D.: Neurotrophin signal transduction in the nervous system. Curr Opin Neurobiol 2000; 10 (3): 381-391.

Karimi M., Fa Llah R.: A case report of congenital insensitivity to pain and anhidrosis (CIPA). Iran J Child Neurol 2012; 6 (3): 45-48.

Kilic S.S., Ozturk R., Sarisozen B., Rotthier A., Baets J., Timmerman V.: Humoral immunodefi ciency in congenital insensitivity to pain with anhidrosis. Neurogenetics 2009; 10 (2): 161-165.

Kim W., Guinot A., Marleix S., Chapuis M., Fraisse B., Violas P.: Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. Orthop Traumatol Surg Res 2013; 99 (7): 881-885.

Kim J.S., Woo Y.J., Kim G.M., Kim C.J., Ma J.S., Hwang T.J. i wsp.: Congenital insensitivity to pain with anhidrosis: a case report. J Korean Med Sci 1999; 14 (4): 460-464.

Kobayashi H., Gleich G.J., Butterfi eld J.H., Kita H.: Human eosinophils produce neurotrophins and secrete nerve growth factor on immunologic stimuli. Blood 2002; 99 (6): 2214-2220.

Lafreniere R.G., MacDonald M.L., Dube M.P., Mac-Farlane J., O’Driscoll M., Brais B. i wsp.: Identifi cation of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian Genetic Isolates. Am J Hum Genet 2004; 74 (5): 1064-1073.

Leon A., Buriani A., Dal Toso R., Fabris M., Romanello S., Aloe L. i wsp.: Mast cells synthesize, store, and release nerve growth factor. Proc Natl Acad Sci USA 1994; 91 (9): 3739-3743.

Levy Erez D., Levy J., Friger M., Aharoni-Mayer Y., Cohen-Iluz M., Goldstein E.: Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis. Dev Med Child Neurol 2010; 52 (6): 559-562.

Li M., Liang J.Y., Sun Z.H., Zhang H., Yao Z.R.: Novel nonense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Genet Mol Res 2012; 11 (3): 2156-2162.

Lin Y.P., Su Y.N., Weng W.C., Lee W.T.: Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J Child Neurol 2010; 25 (12): 1548-1551.

Lu P., Blesch A., Tuszyński M.H.: Neurotrophism without neurotrophism: BDNF promotes survival but not growth of lesioned corticospinal neurons. J Comp Neurol 2001; 436 (4): 456-470.

Mardy S., Miura Y., Endo F., Matsuda I., Sztriha L., Frossard P. i wsp.: Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affi nity receptor for nerve growth facor. Am J Hum Genet 1999; 64 (6): 1570-1579.

Mardy S., Miura Y., Endo F., Matsuda I., Indo Y.: Congenital insensitivity to pain with anhidrosis (CIPA): eff ect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 2001; 10 (3): 179-188.

McKelvey L., Shorten G.D., O’Keeff e G.W.: Nerve growth factor-mediated regulation of pain signaling and proposed new intervention strategies in clinical pain management. J Neurochem 2013; 124 (3): 276-289.

Mimura T., Amano S., Fukuoka S., Honda N., Arita R., Ochiai M. i wsp.: In vivo confocal microscopy of hereditary

sensory and autonomic neuropathy. Curr Eye Res 2008; 33 (11): 940-945.

Minde J.K.: Norrbottian congenital insensitivity to pain. Acta Orthop Suppl 2006; 77 (321): 2-32.

Minde J., Toolanen G., Andersson T., Nennesmo I., Remahl I.N., Svensson O. i wsp.: Familial insensitivity to pain (HSAN V) and mutation in the NGFβ gene. A neurophysiological amd pathological study. Muscle Nerve 2004; 30 (6): 752-760.

Miura Y., Hiura M., Torigoe K., Numata O., Kuwahara A., Matsunaga M. i wsp.: Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Hum Genet 2000; 107 (3): 205-209.

Mobini M., Javadzadeh A., Forghanizadeh J.: Neuropathic osteoarthropathy in a patient with congenital insensitivity to pain. Arch Iran Med 2009; 12 (6): 599-602.

Nagasako E.M., Oaklander A.L., Dworkin R.H.: Congenital insensitivity to pain: an update. Pain 2003; 101 (3): 213-219.

Narayanan V.: Oral and maxillofaciel manifestations of hereditary sensory neuropathy. Br J Oral Maxillofac Surg 1996; 34 (5): 446-449.

Neves B.G., Roza R.T., Castro G.F.: Traumatic lesions from congenital insensitivity to pain with anhidrosis in a pediatric patient: dental management. Dent Traumatol 2009; 25 (5): 545-549.

Nolano M., Crisci C., Santoro L., Barbieri F., Casale R., Kennedy W.R. i wsp.: Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000; 111 (9): 1596-1601.

Okuda K., Arai T., Mia T., Hiroki K.: Anaesthetic management of children with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth 2000; 10 (5): 545-548.

O’Reilly M., Marshall E., Speirs H.J., Brown R.W.: WNK1, a gene within a novel blood pressure control pathway, tissue-specifi cally generates radically diff erent isoforms with and without a kinase domain. J Am Soc Nephrol 2003; 14 (10): 2447-2456.

Osikowicz M.: Rola czynnika wzrostu nerwów (NGF) w patogenezie bólu przewlekłego. Ból 2013; 14 (1): 41-46.

Pezet S., McMahon S.B.: Neurotrophins: mediators and modulators of pain. Ann Rev Neurosci 2006; 29: 507-538.

Potulska-Chromik A., Kabzińska D., Lipowska M., Kostera-Pruszczyk A., Kochański A.: A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neoropathy type 2. Acta Biochim Pol 2012; 59 (3): 413-415.

Prashanth G.P., Kamate M.: A case of heresditary sensory automatic neuropathy type IV. Ann Indian Acad Neurol 2012; 15 (2): 134-136.

Rahman P., Jones A., Curtis J., Barlett S., Peddle L., Fernandez B.A. i wsp.: Th e Newfounland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet 2003; 12 Spec No 2: 167-172.

Reichardt L.F.: Neutrophin-regulated signalling pathwaya. Philos Trans R Soc Lond B Biol Sci 2006; 361 (1473): 1545-1564.

Riviére J.B., Verlaan D.J., Shekarabi M., Lafreniére R.G., Bénard M., Der Kaloustian V.M. i wsp.: A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol 2004; 56 (4): 572-575.

Roddier K., Th omas T., Marleau G., Gagnon A.M., Dicaire M.J., St-Denis A. i wsp.: Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005; 64 (10): 1762-1767.

Rosemberg S., Marie S.K., Kliemann S.: Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994; 11 (1): 50-56.

Rotthier A., Baets J., Timmerman V., Janssens K.: Mechanisms of disease in hereditary sensory and autonomic neuropthies. Nat Rev Neurol 2012; 8 (2): 73-85.

Rupec R.A.: Zaburzenia metabolizmu purynowego, sfi ngolipidozy oraz zaburzenia metabolizmu aminokwasów, [w:] Burgdorf W.H.C., Plewig G., Wolff H.H., Landthaler M.: Braun-Falco Dermatologia. W. Gliński, M. Czarnecka-Operacz, D. Krasowska, A.B. Serwin, H. Wolska (red.), wyd. II polskie. Wyd. Czelej, Lublin 2010: 1256-1266.

Safari A., Khaledi A.A., Vojdani M.: Congenital insensitivity to pain with anhidrosis (CIPA): a case report. Iran Red Crescent Med J 2011; 13 (2): 134-138.

Safka Brozkowa D., Deconick T., Griffi n L.B., Ferbert A., Haberlova J., Mazanec R. i wsp.: Los of function mutations in HARS cause a spectrum of inherided peripheral neuropathies. Brain 2015; 138 (Pt 8): 2161-2172.

Santoro C., Apicella A., Casale F., La Manna A., Di Martino M., Di Pinto A. i wsp.: Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. BMC Cancer 2016; 16: 365.

Sasnur A.H., Sasnur P.A., Ghaus-Ul R.S.: Congeital intensitivity to pain and anhidrosis. Indian J Orthop 2011; 45 (3): 269-271.

Schalka M.M., Correa M.S., Ciamponi A.L.: Congenital insensitivity-to-pain with anhidrosis (CIPA): a case report with 4-year follow-up. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 101 (6): 769-773.

Selicorni A., Russo S., Gervasini C., Castronovo P., Milani D., Cavalleri F. i wsp.: Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 2007; 72 (2): 98-108.

Seneczko F.: Dziedziczne neuropatie czuciowe i autonomiczne – patogeneza, klinika i leczenie. Część I: typy I i III. Dermatol Prakt 2017; 2 (49): 15-29.

Shatzky S., Moses S., Levy J., Pinsk V., Hershkovitz E., Herzog L. i wsp.: Congenital insensitivity to pain with

anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogenicity, novel mutations in the TRKA/NGF receptor gene, clinical fi ndings, and results of nerve conduction studies. Am J Med Genet 2000; 92 (5): 353-360.

Shekarabi M., Girard N., Riviére J.B., Dion P., Houle M., Toulouse A. i wsp.: Mutations in the nervous system – specifi c HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008; 118 (7): 2496-2505.

Shorer Z., Moses S.W., Hershkovitz E., Pinsk V., Levy J.: Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. Pediatr Neurol 2001; 5 (5): 397-400.

Sjöblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D. i wsp.: Th e consensus coding sequences of humanbreast and colorectal cancers. Science 2006; 314 (5797): 268-274.

Takagi M., Ozawa T., Hara K., Naruse S., Ishihara T., Shimbo J. i wsp.: New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. Neurology 2006; 66 (8): 1251-1252.

Th omas P.K.: Autonomic involvement in inherided neuropathies. Clin Auton Res 1992; 2 (1): 51-56.

Toscano E., Andria G.: Congenital insensitivity to pain with anhidrosis: an NGF/TRK A-related disorder. Am J Med Genet 2001; 99 (2): 164-165.

Toscano E., Simonati A., Indo Y., Andria G.: No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic type V. Ann Neurol 2002; 52 (2): 224-227.

Vidal-Petiot E., Cheval L., Faugeroux J., Malard T., Doucet A., Jeunemaitre X. i wsp.: A new methodology for quantifi cation of alternatively spliced exons reveals a hightly tissue-specifi c expression pattern of WNK1 isoforms. PLoS One 2012; 7 (5): e37751.

Wang Q., Guo S., Duan G., Xiang G., Ying Y., Zhang Y. i wsp.: Novel and novel de novo mutations in NTRK1 associeted with congenital insensitivity to pain with anhidrosis; a case report. Medicine (Baltimore) 2015; 94 (19): e871.

Wilson F.H., Disse-Nicodéme S., Choate K.A., Ishikawa K., Nelson-Williams C., Desitter I. i wsp.: Human hypertension aused by mutations in WNK kinases. Science 2001; 293 (5532): 1107-1112.

Wukich D.K., Sung W.: Charcot arthropathy of the foot and ankle: modern concepts and management review. J Diabetes Complications 2009; 23 (6): 409-426.

Yamada K., Yuan J., Mano T., Takashima H., Shibata M.: Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensoryand autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report. BMC Neurol 2016; 16 (1): 201.

Zaenglein A.L., Chang M.W., Meeha S.A., Axelrod F.B., Orlow S.J.: Extensive Riga-Fede disease of the lip and tongue. J Am Acad Dermatol 2002; 47 (3): 445-447.

Zlotnik A., Natanel D., Kutz R., Boyko M., Brotfain E., Gruebaum B.F. i wsp.: Anesthetic management of patients with congenital insensitivity to pain with anhidrosis: a retrospective analysis of 358 procedures performer under general anesthesia. Anesth Analg 2015; 121 (5): 1316-1320.


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