Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: Clinical features in two families linked to chromosome 3p22-p24

Brain

Volumn 128, Issue 12, 2005, Pages 2797-2810

  Spring, Penelope J ^a,i   Kok, Cindy ^b   Nicholson, Garth A ^c   Ing, Alvin J ^d   Spies, Judith M ^a   Bassett, Mark L ^c,e   Cameron, John ^e   Kerlin, Paul ^g   Bowler, Simon ^h   Tuck, Roger ^f   Pollard, John D ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b ANZAC RESEARCH INSTITUTE   (Australia)

^c AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e Department of Neurology ^*  (Australia)

^f CANBERRA HOSPITAL   (Australia)

^g PRINCESS ALEXANDRA HOSPITAL   (Australia)

^h MATER ADULT HOSPITAL   (Australia)

ⁱ Department of Microbiology and Infectious Diseases   (Australia)

Author keywords

Autonomic dysfunction; Epidermal nerve; Hereditary neuropathy; Neuropathy; Skin biopsy

Indexed keywords

ADULT; AGED; ALLGROVE SYNDROME; ANHIDROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD; CHROMOSOME 3P; CLINICAL ARTICLE; CLINICAL FEATURE; COUGHING; DENERVATION; DISEASE ASSOCIATION; ESOPHAGUS; EXTERNAL AUDITORY CANAL; FEMALE; GASTROESOPHAGEAL REFLUX; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HOARSENESS; HUMAN; LARYNX DISORDER; MALE; NEUROPATHY; ODOR; PH MEASUREMENT; PRESSURE; PRIORITY JOURNAL; SENSORY DYSFUNCTION; STOMACH EMPTYING; SWEAT TEST; UPPER RESPIRATORY TRACT; VOCAL CORD PARALYSIS;

ADULT; AGED; AUSTRALIA; CHROMOSOMES, HUMAN, PAIR 3; COUGH; FEMALE; GASTROESOPHAGEAL REFLUX; GENES, DOMINANT; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HOARSENESS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; SYNCOPE;

EID: 28544452545     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awh653     Document Type: Article

References (78)

1. Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology 2000a; 55: 1552-7.
2. 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 2000b; 54: 45-52.
3. Aviv JE, Kim T, Sacco RL, Kaplan S, Goodhart K, Diamond B, et al. FEESST: a new bedside endoscopic test of the motor and sensory components of swallowing. Ann Otol Rhinol Laryngol 1998a; 107: 378-87.
4. Aviv JE, Kim T, Thomson JE, Sunshine S, Kaplan S, Close LG. Fiberoptic endoscopic evaluation of swallowing with sensory testing (FEESST) in healthy controls. Dysphagia 1998b; 13: 87-92.
5. Axelrod FB, Gouge TH, Ginsburg HB, Bangaru BS, Hazzi C. Fundoplication and gastrostomy in familial dysautonomia. J Pediatr 1991; 118: 388-94.
6. Baloh RH, Jen JC, Kim G, Baloh RW. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology 2004; 62: 1905-6.
7. Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001; 27: 261-2.
8. Bellone E, Rodolico C, Toscano A, Di Maria E, Cassandrini D, Pizzuti A, et al. A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. Neuromuscul Disord 2002; 12: 286-91.
9. Bloustine S, Langston L, Miller T. Ear-cough (Arnold's) reflex. Ann Otol Rhinol Laryngol 1976; 85: 406-7.
10. Canning BJ. Interactions between vagal afferent nerve subtypes mediating cough. Pulm Pharmacol Ther 2002; 15: 187-92.
11. Crabb DW, Berk MA, Hall TR, Conneally PM, Biegel AA, Lehman GA. Familial gastroesophageal reflux and development of Barrett's esophagus. Ann Intern Med 1985; 103: 52-4.
12. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, et al. The gene encoding ganglioside-induced differentiation- associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002; 30: 22-5.
13. 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: 309-12.
14. De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997; 62: 570-3.
15. Denny-Brown D. Hereditary sensory radicular neuropathy. J Neurol Neurosurg Psychiatry 1951; 14: 237-52.
16. Dent J. Patterns of lower esophageal sphincter function associated with gastroesophageal reflux. Am J Med 1997; 103: 29S-32S.
17. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathies. Philadelphia: W.B. Saunders; 1993. p. 1065-93.
18. Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, et al. Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy. Brain 1983; 106: 373-90.
19. Dyck PJ, Litchy WJ, Minnerath S, Bird TD, Chance PF, Schaid DJ, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994; 35: 608-15.
20. Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet 2004; 13: 799-805.
21. Elliott JL, Kwon JM, Goodfellow PJ, Yee WC. Hereditary motor and sensory neuropathy UB: clinical and electrodiagnostic characteristics. Neurology 1997; 48: 23-8.
22. Feldman JI, Woodworth WF. Cause for intractable chronic cough: Arnold's nerve. Arch Otolaryngol Head Neck Surg 1993; 119: 1042.
23. Flynn P, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965; 2: 161-82.
24. Goebel HH, Veit S, Dyck PJ. Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 1980; 39: 670-5.
25. Gupta D, Verma S, Vishwakarma SK. Anatomic basis of Arnold's ear-cough reflex. Surg Radiol Anat 1986; 8: 217-20.
26. Heckmann JM, Carr JA, Bell N. Hereditary sensory and autonomic neuropathy with cataracts, mental retardation, and skin lesions: five cases. Neurology 1995; 45: 1405-8.
27. Hicks EP. Hereditary perforating ulcer of the foot. Lancet 1922; 1: 319-21.
28. Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002; 12 Suppl 1: I33-43.
29. Hilz MJ, Stemper B, Axelrod FB. Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology 1999; 52: 1652-7.
30. Hojo K, Imamura T, Takanashi M, Ishii K, Sasaki M, Imura S, et al. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. Eur J Neurol 1999; 6: 357-61.
31. Horoupian DS. Hereditary sensory neuropathy with deafness: a familial multisystem atrophy. Neurology 1989; 39: 244-8.
32. Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002; 125: 2681-90.
33. Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, et al. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 2004; 56: 586-90.
34. Hu FZ, Preston RA, Post JC, White GJ, Kikuchi LW, Wang X, et al. Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. JAMA 2000; 284: 325-34.
35. Indo YMT, 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: 485-8.
36. Ing AJ. Cough and gastroesophageal reflux. Am J Med 1997; 103: 91S-6S.
37. Ing AJ, Ngu MC, Breslin AB. Chronic persistent cough and gastrooesophageal reflux. Thorax 1991; 46: 479-83.
38. Ing AJ, Ngu MC, Breslin AB. Pathogenesis of chronic persistent cough associated with gastroesophageal reflux. Am J Respir Crit Care Med 1994; 149: 160-7.
39. Irwin RS, Richter JE. Gastroesophageal reflux and chronic cough. Am J Gastroenterol 2000; 95: S9-14.
40. Itoh Y, Yagishita S, Nakajima S, Nakano T, Kawada H. Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves. Neuropediatrics 1986; 17: 103-10.
41. Jacob P, Kahrilas PJ, Herzon G. Proximal esophageal pH-metry in patients with 'reflux laryngitis'. Gastroenterology 1991; 100: 305-10.
42. Jardine DL, Melton IC, Bennett SI, Crozier IG, Donaldson IM, Ikram H. Baroreceptor denervation presenting as part of a vagal mononeuropathy. Clin Auton Res 2000; 10: 69-75.
43. Kahrilas PJ. Functional anatomy and physiology of the esophagus. In: Castell DO, editor. The esophagus. Boston, MA: Little, Brown and Company; 1995. p. 1-28.
44. Katz PO. Gastroesophageal reflux - is it hereditary? Am J Gastroenterol 1998; 93: 1007-8.
45. Katz PO. Gastroesophageal reflux disease - state of the art. Rev Gastroenterol Disord 2001; 1: 128-38.
46. Kimber J, Mitchell D, Mathias CJ. Chronic cough in the Holmes-Adie syndrome: association in five cases with autonomic dysfunction. J Neurol Neurosurg Psychiatry 1998; 65: 583-6.
47. Kok C, Kennerson ML, Spring PJ, Ing AJ, Pollard JD, Nicholson GA. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am J Hum Genet 2003; 73: 632-7.
48. Kwon JM, Elliott JL, Yee WC, Ivanovich J, Scavarda NJ, Moolsintong PJ, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995; 57: 853-8.
49. McArthur JC, Stocks EA, Hauer P, Cornblath DR, Griffin JW. Epidermal nerve fiber density: normative reference range and diagnostic efficiency. Arch Neurol 1998; 55: 1513-20.
50. McCarthy BG, Hsieh ST, Stocks A, Hauer P, Macko C, Cornblath DR, et al. Cutaneous innervation in sensory neuropathies: evaluation by skin biopsy. Neurology 1995; 45: 1848-55.
51. McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, et al. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet 2001; 68: 1270-6.
52. McEntagart M, Dunstan M, Bell C, Boltshauser E, Donaghy M, Harper PS, et al. Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness. J Neurol Neurosurg Psychiatry 2002; 73: 762-5.
53. McLeod JG. Invited review: autonomic dysfunction in peripheral nerve disease. Muscle Nerve 1992; 15: 3-13.
54. Minde J, Toolanen G, Andersson T, Nennesmo I, Remahl IN, Svensson O, et al. Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. Muscle Nerve 2004; 30: 752-60.
55. Nebel OT, Fornes MF, Castell DO. Symptomatic gastroesophageal reflux: incidence and precipitating factors. Am J Dig Dis 1976; 21: 953-6.
56. Nelis E, Berciano J, Verpooten N, Coen K, Dierick I, Van Gerwen V, et al. Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J Med Genet 2004: 193-7.
57. Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 1996; 13: 101-4.
58. Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet 2001; 69: 655-9.
59. Nolano M, Crisci C, Santoro L, Barbieri F, Casale R, Kennedy WR, et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000; 111: 1596-601.
60. Periquet MI, Novak V, Collins MP, Nagaraja HN, Erdem S, Nash SM, et al. Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology 1999; 53: 1641-7.
61. Puetz TR, Vakil N. Gastroesophageal reflux-induced cough syncope. Am J Gastroenterol 1995; 90: 2204-6.
62. Riley CM, Day RL, Greely D, Langfort WS. Central autonomic dysfunction with defective lacrimation. Pediatrics 1949; 3: 468-77.
63. Romero Y, Cameron AJ, Locke GR, 3rd, Schaid DJ, Slezak JM, Branch CD, et al. Familial aggregation of gastroesophageal reflux in patients with Barrett's esophagus and esophageal adenocarcinoma. Gastroenterology 1997; 113: 1449-56.
64. Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994; 11: 50-6.
65. Sannomiya K, Kudo Y, Mori T, Nakazato O, Okajima T. [A case of acute idiopathic pandysautonomia]. Rinsho Shinkeigaku 1989; 29: 895-900.
66. Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999; 64: 586-93.
67. Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003; 126: 2023-33.
68. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598-605.
69. Suwanprathes P, Ngu M, Ing A, Hunt G, Seow F. c-Fos immunoreactivity in the brain after esophageal acid stimulation. Am J Med 2003; 115 Suppl 3A: 31S-8S.
70. Swanson AG. Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch Neurol 1963; 8: 299-306.
71. Tekdemir I, Asian A, Elhan A. A clinico-anatomic study of the auricular branch of the vagus nerve and Arnold's ear-cough reflex. Surg Radiol Anat 1998; 20: 253-7.
72. Vaezi MF, Richter JE. Twenty-four-hour ambulatory esophageal pH monitoring in the diagnosis of acid reflux-related chronic cough. South Med J 1997; 90: 305-11.
73. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003; 72: 722-7.
74. Verze L, Viglietti-Panzica C, Plumari L, Calcagni M, Stella M, Schrama LH, et al. Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. Neurology 2000; 55: 126-8.
75. Wallace DC. Hereditary sensory radicular neuropathy. A family study. Australian Medical Association Mervyn Archdall Medical Monograph No. 8. Sydney: Australasian Medical Publishing Company; 1970. p. 13-22.
76. Wright A, Dyck PJ. Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. Neurology 1995; 45: 560-2.
77. Ylitalo R, Lindestad PA, Ramel S. Symptoms, laryngeal findings, and 24-hour pH monitoring in patients with suspected gastroesophago-pharyngeal reflux. Laryngoscope 2001; 111: 1735-41.
78. Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 1980; 43: 413-8.