The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene

Neuropediatrics

Volumn 35, Issue 5, 2004, Pages 274-278

  Ohto, Tatsuyuki ^a   Iwasaki, N ^a   Fujiwara, J ^b,c   Ohkoshi, N ^a   Kimura, S ^b   Kawade, K ^a   Tanaka, R ^a   Matsui, A ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b TSUKUBA UNIVERSITY OF TECHNOLOGY   (Japan)

^c Minamitsurugun Fujikawaguchikomachi   (Japan)

Author keywords

Autonomic nervous system function; Hereditary sensory and autonomic neuropathy type IV; TRKA gene

Indexed keywords

PROTEIN TYROSINE KINASE;

ANALGESIA (SENSORY DYSFUNCTION); ANHIDROSIS; ARTICLE; AUTOMUTILATION; AUTONOMIC NERVOUS SYSTEM; AUTONOMIC NEUROPATHY; CARDIOVASCULAR SYSTEM; CASE REPORT; CHILD; CIRCADIAN RHYTHM; FEMALE; FUNCTION TEST; GENE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; PATHOPHYSIOLOGY; PRESSORECEPTOR REFLEX; PRIORITY JOURNAL; SENSORY NEUROPATHY; SYMPATHETIC NERVE; TRKA GENE;

AUTONOMIC NERVOUS SYSTEM; CARDIOVASCULAR SYSTEM; CHILD; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION, MISSENSE; RECEPTOR, TRKA; SURAL NERVE;

EID: 8844224856     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821254     Document Type: Article

References (11)

1. Fujiwara J, Kimura S, Tsukayama H, Nakahara S, Haibara S, Fujita M et al. Evaluation of the autonomic nervous system function in children with primary monosymptomatic nocturnal enuresis - power spectrum analysis of heart rate variability using 24-hour Holter electrocardiograms. Scand J Urol Nephrol 2001; 35: 350-356
2. Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002; 12 (Suppl 1): 133-143
3. Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M et al. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol 2001; 49: 521-525
4. Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996; 13: 485-488
5. Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res 2002; 12 (Suppl 1): 120-132
6. Langer J, Goebel HH, Veit S. Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. Acta Neuropathol (Berl) 1981; 54: 199-202
7. Levi-Montalcini R. The nerve growth factor: thirty-five years later. Biosci Rep 1987; 7: 681-699
8. Maeda S, Fujiwara J, Tsukayama H. Study of thermogram during the postural change in normal puberty children (in Japanese). Nippon-shounika-gakkai-zasshi 1996; 100: 1587-1593
9. Martin-Zanca D, Oskam R, Mitra G, Copeland T, Barbacid M. Molecular and biochemical characterization of the human trk proto-oncogene. Mol Cell Biol 1989; 9: 24-33
10. Rafel E, Alberca R, Bautista J, Navarrete M, Lazo J. Congenital insensitivity to pain with anhidrosis. Muscle Nerve 1980; 3: 216-220
11. Smeyne RJ, Klein R, Schnapp A, Long LK, Bryant S, Lewin A et al. Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature 1994; 368: 246-249