Hereditary sensory and autonomic neuropathy with autonomic crises: A Turkish variant of familial dysautonomia?

Journal of Child Neurology

Volumn 27, Issue 2, 2012, Pages 191-196

  Koy, Anne ^a   Freynhagen, Rainer ^a,b   Mayatepek, Ertan ^a   Tibussek, Daniel ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b Benedictus Krankenhaus Tutzing   (Germany)

Author keywords

autonomic crises; dysautonomia; pain; sensory neuropathy

Indexed keywords

ALPHA TOCOTRIENOL; AMITRIPTYLINE; ANTIEMETIC AGENT; BENZODIAZEPINE; BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; CHAPERONIN CONTAINING TCP1; CLONIDINE; CYCLOOXYGENASE 2 INHIBITOR; DOMPERIDONE; ERYTHROMYCIN; GREEN TEA EXTRACT; IMMUNOGLOBULIN KAPPA CHAIN; MORPHINE DERIVATIVE; NERVE GROWTH FACTOR BETA SUBUNIT; PREGABALIN; PROPRANOLOL; PROTEIN KINASE WNK1; PROTON PUMP INHIBITOR; RAS PROTEIN; SERINE PALMITOYLTRANSFERASE;

ABDOMINAL PAIN; ARTICLE; ATAXIA; AUTONOMIC NEUROPATHY; BONE PAIN; CASE REPORT; CHRONIC OSTEOMYELITIS; CONCENTRATION LOSS; CRYING; DISEASE COURSE; DRUG WITHDRAWAL; DYSAUTONOMIA; EMOTIONAL STRESS; FEBRILE CONVULSION; FOOT AMPUTATION; FOOT DISEASE; GENETIC ASSOCIATION; HEADACHE; HEARING IMPAIRMENT; HEART RATE VARIABILITY; HOSPITAL ADMISSION; HUMAN; HYPERTENSION; LEG AMPUTATION; MALE; MEDIAN NERVE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NAUSEA; NERVE BIOPSY; NEUROPATHY; OSTEOMYELITIS; PERCEPTION DEAFNESS; PERONEUS NERVE; PRIORITY JOURNAL; PROPRIOCEPTION; PSYCHOMOTOR DEVELOPMENT; PSYCHOPHYSIOLOGY; SCOLIOSIS; SENSORY DYSFUNCTION; SENSORY NEUROPATHY; SKIN ULCER; SURAL NERVE; TURKEY (REPUBLIC); UNSTEADINESS; VOMITING;

CHILD; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; TURKEY; YOUNG ADULT;

EID: 84857431766     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811416664     Document Type: Article

References (27)

1. Auer-Grumbach M.. Hereditary sensory neuropathy type I. Orphanet J Rare Dis. 2008 ; 3: 7
2. Axelrod FB, Gold-von Simson G.. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis. 2007 ; 2: 39
3. Rolke R, Baron R, Maier C, et al. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardised protocol and reference values. Pain. 2006 ; 123: 231-243
4. Blankenburg M, Boekens H, Hechler T, et al. Reference values for quantitative sensory testing in children and adolescents: developmental and gender differences of somatosensory perception. Pain. 2010 ; 149: 76-78
5. Cinar Y, Hekimoglu F, Ince B, Ince U, Onganer E.. A case of a hereditary, late progressing sensory autonomic neuropathy. Clin Neuropathol. 1998 ; 17: 12-14 (Pubitemid 28103722)
6. Axelrod FB.. Genetic disorders as models to understand autonomic dysfunction. Clin Auton Res. 2002 ; 12(Suppl)1: 1
7. Dyck P, Ohta M Peripheral Neuropathy. Dyck PJ Thomas PK Lambert EH, ed. Philadelphia: WB Saunders ; 1973: 791.
8. Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 ; 27: 261-262 (Pubitemid 32201845)
9. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 ; 27: 309-312 (Pubitemid 32201853)
10. Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the NTRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996 ; 13: 485-488 (Pubitemid 26256627)
11. Pinsky L, DiGeorge AM.. Congenital familial sensory neuropathy with anhidrosis. J Pediatr. 1966 ; 68: 1-13
12. Axelrod FB, Chelimsky GG, Weese-Mayer DE.. Pediatric autonomic disorders. Pediatrics. 2006 ; 118: 309-321 (Pubitemid 46071177)
13. Einarsdottir E, Carlsson A, Minde J, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet. 2004 ; 13: 799-805 (Pubitemid 38515209)
14. Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M.. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1. Eur J Hum Genet. 2006 ; 14: 249-252 (Pubitemid 43135870)
15. Axelrod FB.. Hereditary sensory and autonomic neuropathies: familial dysautonomia and other HSANs. Clin Auton Res. 2002 ; 12: 2-14
16. Lafreniere RG, MacDonald ML, Dube MP, et al. Identification 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: 1064-1073 (Pubitemid 38568977)
17. Kurth I, Pamminger T, Hennings JC, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 ; 41: 1179-1181
18. Axelrod FB Principles and Practice of Medical Genetics. Rimoin DL Connor JM Pyeritz RE Korf BR, ed. Edinburgh: Churchill Livingstone ; 2007: 2802-2816.
19. Thomas PK.. Autonomic involvement in inherited neuropathies. Clin Auton Res. 1992 ; 2: 51-56
20. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 ; 68: 598-605 (Pubitemid 32202755)
21. Aguayo AJ, Nair CP, Bray GM.. Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy. Arch Neurol. 1971 ; 24: 106-116
22. Welton W, Clayson D, Axelrod FB, Levine DB.. Intellectual development and familial dysautonomia. Pediatrics. 1979 ; 63: 708-712 (Pubitemid 9150087)
23. Axelrod FB, Zupanc M, Hilz MJ, Kramer EL.. Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology. 2000 ; 55: 122-125 (Pubitemid 30461012)
24. Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTPase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003 ; 72: 722-727 (Pubitemid 36255971)
25. Rotthier A, Baets J, DeVriendt E, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain. 2009 ; 132: 2699-2711
26. Kok C, Kennerson ML, Spring PJ, et al. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am J Hum Genet. 2003 ; 73: 632-637 (Pubitemid 37076275)
27. Rotthier A, Auer-Grumbach M, Janssens K, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet. 2010 ; 87: 513-522