Hereditary neuropathies with self-mutilation

Journal of Pediatric Neurology

Volumn 2, Issue 4, 2004, Pages 205-211

  Gadoth, Natan ^a,b   Mass, Eliyah ^b  

^a MEIR MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Familial dysautonomia; Hereditary neuropathy; Self mutilation

Indexed keywords

EID: 85013604215     PISSN: 13042580     EISSN: 13050613     Source Type: Journal    
DOI: 10.1055/s-0035-1557221     Document Type: Article

References (47)

1. Tate BG, Baroff GS. Aversive control of self-injurious behavior in a psychotic boy. Behav Res Ther 1966; 4: 281-287.
2. Rojahn J. Epidemiology and topographic taxonomy in self-injurious behavior. In: Thompson T, Gray DB (eds). Destructive Behavior in Developmental Disabilities. Diagnosis and Treatment. Thousand Oaks, CA: Sage, 1994, pp 49-67.
3. Briere J, Gil E. Self-mutilation in clinical and general population samples: prevalence, correlates, and functions. Am J Orthopsychiatry 1998; 68: 609-620.
4. Menkes JH, Sarnat HB. Child Neurology (6th ed). Philadelphia: Lippincott Williams & Wilkins, 2000.
5. Harris JC, Disorders of purine and pyrimidine metabolism. Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediatrics (17th ed). Philadelphia: WB Saunders, 2004, pp 486-494.
6. Adams RD, Victor M, Ropper AH. Principles of Neurology (6th ed). New York: McGraw-Hill, 1997.
7. Robertson MM, Trimble MR, Lees AJ. Self-injurious behaviour and the Gilles de la Tourette syndrome: a clinical study and review of the literature. Psychol Med 1989; 19: 611-625.
8. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80: 475-491.
9. Mitchell G, Larochelle J, Lambert M, et al. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432-437.
10. Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Cri-du-chat syndrome: changing phenotype in older patients. Am J Med Genet 2000; 90: 203-215.
11. Barry JE, Hopkins IJ, Neal BW. Congenital sensory neuropathy. Arch Dis Child 1974; 49: 128-132.
12. Axelrod FB, Cash R, Pearson J. Congenital autonomic dysfunction with universal pain loss. J Pediatr 1983; 103: 60-64.
13. Roach ES, Abramson JS, Lawless MR. Self-injurious behavior in acquired sensory neuropathy. Neuropediatrics 1985; 16: 159-161.
14. Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve 1998; 21: 104-111.
15. Al-Qattan MM. Self-mutilation in children with obstetric brachial plexus palsy. J Hand Surg [Br] 1999; 24: 547-549.
16. Vogel LC, Anderson CJ. Self-injurious behavior in children and adolescents with spinal cord injuries. Spinal Cord 2002; 40: 666-668.
17. Thomas PK, Claus D, King RH. Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy. J Neurol 1999; 246: 107-112.
18. Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P, Hartung HP. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 2000; 54: 45-52.
19. Jacobs JM, Scaravilli F, Duchen LW, Mertin J. A new neurological rat mutant "mutilated foot". J Anat 1981; 132: 525-543.
20. Pivnik L. Zur vergleichenden Problematic einiger akrodystrophis. Neuropathien bei Menschen Und Hund. (Comparative problems of acrodystrophic neuropathies in man and dogs). Schweiz Arch Neurol Neurochir Psychiatr 1973; 112: 365-371 (in German).
21. Cummings JF, de Lahunta A, Winn SS. Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol 1981; 53: 119-127.
22. 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.
23. Lehavi O, Aizenstein O, Bercovich D, et al. Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews. Genet Test 2003; 7: 139-142.
24. Perlman M, Benady S, Saggi E. Neonatal diagnosis of familial dysautonomia. Pediatrics 1979; 63: 238-241.
25. Gadoth N, Margalith D, Schlien N, Svetliza E, Litwin A. Presence of fungiform papillae in classic dysautonomia. Johns Hopkins Med J 1982; 151: 298-301.
26. Gadoth N. Familial dysautonomia: hereditary autonomic and sensory neuropathy type III. In: Korczyn AD (ed). Handbook of Autonomic System Dysfunction. New York: Marcel Dekker, 1995, pp 95-115.
27. Pearson J, Budzilovich G, Finegold MJ. Sensory, motor, and autonomic dysfunction: the nervous system in familial dysautonomia. Neurology 1971; 21: 486-493.
28. Pearson J, Brandeis L, Cuello AC. Depletion of substance P-containing axons in substantia gelatinosa of patients with diminished pain sensitivity. Nature 1982; 295: 61-63.
29. 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.
30. Axelrod FB, Iyer K, Fish I, Pearson J, Sein ME, Spielholz N. Progressive sensory loss in familial dysautonomia. Pediatrics 1981; 67: 517-522.
31. Brown JC, Johns RJ. Nerve conduction in familial dysautonomia: Riley-Day syndrome. JAMA 1967; 201: 200.
32. Rakocz M, Frand M, Brand N. Familial dysautonomia with Riga-Fede disease: report of case. ASDC J Dent Child 1987; 54: 57-59.
33. Mass E, Sarnat H, Ram D, Gadoth N. Dental and oral findings in patients with familial dysautonomia. Oral Surg Oral Med Oral Pathol 1992; 74: 305-311.
34. Mass E, Gadoth N. Oro-dental self-mutilation in familial dysautonomia. J Oral Pathol Med 1994; 23: 273-276.
35. Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996; 13: 485-488.
36. Smeyne RJ, Klein R, Schnapp A, et al. Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature 1994; 368: 246-249.
37. Shatzky S, Moses S, Levy J, et al. Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am J Med Genet 2000; 92: 353-360.
38. Goebel HH, Veit S, Dyck PJ. Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 1980; 39: 670-675.
39. Langer J, Goebel HH, Veit S. Eccrine sweat glands type IV. An electron-microscopic study. Acta Neuropathol (Berl) 1981; 54: 199-202.
40. Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A 1996; 93: 5539-5543.
41. Schroeder SR, Oster-Granite ML, Berkson G, et al. Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev 2001; 7: 3-12.
42. Mueller K, Nyhan WL. Pharmacologic control of pemoline induced self-injurious behavior in rats. Pharmacol Biochem Behav 1982; 16: 957-963.
43. Lara-Lemus A, Perez de la Mora M, Mendez-Franco J, Palomero-Rivero M, Drucker-Colin R. Effects of REM sleep deprivation on the d-amphetamine-induced self-mutilating behavior. Brain Res 1997; 770: 60-64.
44. Shishido T, Watanabe Y, Kato K, Horikoshi R, Niwa SI. Effects of dopamine, NMDA, opiate, and serotonin-related agents on acute methamphetamine-induced self-injurious behavior in mice. Pharmacol Biochem Behav 2000; 66: 579-583.
45. Jinnah HA, Yitta S, Drew T, Kim BS, Visser JE, Rothstein JD. Calcium channel activation and self-biting in mice. Proc Natl Acad Sci U S A 1999; 96: 15228-15232.
46. Kasim S, Jinnah HA. Self-biting induced by activation of L-type calcium channels in mice: dopaminergic influences. Dev Neurosci 2003; 25: 20-25.
47. Neil A, Attal N, Guilbaud G. Effects of guanethidine on sensitization to natural stimuli and self-mutilating behaviour in rats with a peripheral neuropathy. Brain Res 1991; 565: 237-246.