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Volumn 133, Issue 10, 2010, Pages 2909-2919

Peripheral neuropathy in adult type 1 Gaucher disease: A 2-year prospective observational study

Author keywords

EMG; Gaucher disease; incidence; peripheral neuropathy; prevalence

Indexed keywords

GLUCOSYLCERAMIDASE; TOXIN;

EID: 77957680068     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq198     Document Type: Article
Times cited : (72)

References (57)
  • 1
    • 0034554907 scopus 로고    scopus 로고
    • Simple and effective confidence intervals for proportions and differences of proportions result from adding two successes and two failures
    • Agresti A, Caffo B. Simple and effective confidence intervals for proportions and differences of proportions result from adding two successes and two failures. Am Stat 2000; 54: 280-8.
    • (2000) Am Stat , vol.54 , pp. 280-288
    • Agresti, A.1    Caffo, B.2
  • 4
    • 0023951669 scopus 로고
    • Polyneuropathy in an adult hospital population. Assessment of the prevalence through a simple screening procedure
    • Beghi E, Simone P, Apollo F, Di Viesti P, Treviso M, Tonali P. Polyneuropathy in an adult hospital population. Assessment of the prevalence through a simple screening procedure. Neuroepidemiology 1988; 7: 23-8.
    • (1988) Neuroepidemiology , vol.7 , pp. 23-28
    • Beghi, E.1    Simone, P.2    Apollo, F.3    Di Viesti, P.4    Treviso, M.5    Tonali, P.6
  • 5
    • 0032143115 scopus 로고    scopus 로고
    • Chronic symmetric symptomatic polyneuropathy in the elderly: A field screening investigation of risk factors for poly-neuropathy in two Italian communities. Italian General Practitioner Study Group (IGPST)
    • Beghi E, Monticelli ML. Chronic symmetric symptomatic polyneuropathy in the elderly: a field screening investigation of risk factors for poly-neuropathy in two Italian communities. Italian General Practitioner Study Group (IGPST). J Clin Epidemiol 1998; 51: 697-702.
    • (1998) J Clin Epidemiol , vol.51 , pp. 697-702
    • Beghi, E.1    Monticelli, M.L.2
  • 6
  • 7
    • 0023414636 scopus 로고
    • Pilot survey of the prevalence of neurologic disorders in the Parsi community of Bombay
    • Bharucha NE, Bharucha EP, Dastur HD, Schoenberg BS. Pilot survey of the prevalence of neurologic disorders in the Parsi community of Bombay. Am J Prev Med 1987; 3: 293-9.
    • (1987) Am J Prev Med , vol.3 , pp. 293-299
    • Bharucha, N.E.1    Bharucha, E.P.2    Dastur, H.D.3    Schoenberg, B.S.4
  • 8
    • 0025739258 scopus 로고
    • Prevalence of peripheral neuropathy in the Parsi community of Bombay
    • Bharucha NE, Bharucha AE, Bharucha EP. Prevalence of peripheral neuropathy in the Parsi community of Bombay. Neurology 1991; 41: 1315-7.
    • (1991) Neurology , vol.41 , pp. 1315-1317
    • Bharucha, N.E.1    Bharucha, A.E.2    Bharucha, E.P.3
  • 9
    • 45849136270 scopus 로고    scopus 로고
    • 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type i Gaucher disease patients and a systematic review of the literature
    • Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008; 31: 337-49.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 337-349
    • Biegstraaten, M.1    Van Schaik, I.N.2    Aerts, J.M.3    Hollak, C.E.4
  • 11
    • 0034626360 scopus 로고    scopus 로고
    • The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
    • Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160: 2835-43.
    • (2000) Arch Intern Med , vol.160 , pp. 2835-2843
    • Charrow, J.1    Andersson, H.C.2    Kaplan, P.3    Kolodny, E.H.4    Mistry, P.5    Pastores, G.6
  • 13
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher's disease: Clinical features and natural history
    • Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol 1997; 10: 657-89.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 657-689
    • Cox, T.M.1    Schofield, J.P.2
  • 14
    • 0034728914 scopus 로고    scopus 로고
    • Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hreb?́cek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481-5.
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1    Lachmann, R.2    Hollak, C.3    Aerts, J.4    Van Weely, S.5    Hreb́cek, M.6
  • 15
    • 10744226382 scopus 로고    scopus 로고
    • The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type i (non-neuronopathic) Gaucher disease: A position statement
    • Cox TM, Aerts JM, Andria G, Belmatoug N, Bembi B, Chertkoff R, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 2003; 26: 513-26.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 513-526
    • Cox, T.M.1    Aerts, J.M.2    Andria, G.3    Belmatoug, N.4    Bembi, B.5    Chertkoff, R.6
  • 16
    • 4544367196 scopus 로고    scopus 로고
    • Chronic painful peripheral neuropathy in an urban community: A controlled comparison of people with and without diabetes
    • Daousi C, MacFarlane IA, Woodward A, Nurmikko TJ, Bundred PE, Benbow SJ. Chronic painful peripheral neuropathy in an urban community: a controlled comparison of people with and without diabetes. Diabet Med 2004; 21: 976-82.
    • (2004) Diabet Med , vol.21 , pp. 976-982
    • Daousi, C.1    MacFarlane, I.A.2    Woodward, A.3    Nurmikko, T.J.4    Bundred, P.E.5    Benbow, S.J.6
  • 17
    • 4644263622 scopus 로고    scopus 로고
    • Clinical and laboratory assessment of distal peripheral nerves in Gulf War veterans and spouses
    • Davis LE, Eisen SA, Murphy FM, Alpern R, Parks BJ, Blanchard M, et al. Clinical and laboratory assessment of distal peripheral nerves in Gulf War veterans and spouses. Neurology 2004; 63: 1070-7.
    • (2004) Neurology , vol.63 , pp. 1070-1077
    • Davis, L.E.1    Eisen, S.A.2    Murphy, F.M.3    Alpern, R.4    Parks, B.J.5    Blanchard, M.6
  • 18
    • 0025155504 scopus 로고
    • AAEM minimonograph #34: Polyneuropathy: Classification by nerve conduction studies and electromyography
    • Donofrio PD, Albers JW. AAEM minimonograph #34: polyneuropathy: classification by nerve conduction studies and electromyography. Muscle Nerve 1990; 13: 889-903.
    • (1990) Muscle Nerve , vol.13 , pp. 889-903
    • Donofrio, P.D.1    Albers, J.W.2
  • 19
    • 33947709329 scopus 로고    scopus 로고
    • Chronic neuropathic pain: Mechanisms, drug targets and measurement
    • Finnerup NB, Sindrup SH, Jensen TS. Chronic neuropathic pain: mechanisms, drug targets and measurement. Fundam Clin Pharmacol 2007; 21: 129-36.
    • (2007) Fundam Clin Pharmacol , vol.21 , pp. 129-136
    • Finnerup, N.B.1    Sindrup, S.H.2    Jensen, T.S.3
  • 20
    • 42549170751 scopus 로고    scopus 로고
    • Immunoglobulin and free light chain abnormalities in Gaucher disease type I: Data from an adult cohort of 63 patients and review of the literature
    • De Fost M, Out TA, de Wilde FA, Tjin EP, Pals ST, van Oers MH, et al. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Ann Hematol 2008; 87: 439-49.
    • (2008) Ann Hematol , vol.87 , pp. 439-449
    • De Fost, M.1    Out, T.A.2    De Wilde, F.A.3    Tjin, E.P.4    Pals, S.T.5    Van Oers, M.H.6
  • 21
    • 0025214483 scopus 로고
    • Sensory neuropathy in non-insulin-dependent diabetes mellitus
    • The San Luis Valley Diabetes Study
    • Franklin GM, Kahn LB, Baxter J, Marshall JA, Hamman RF. Sensory neuropathy in non-insulin-dependent diabetes mellitus. The San Luis Valley Diabetes Study. Am J Epidemiol 1990; 131: 633-43.
    • (1990) Am J Epidemiol , vol.131 , pp. 633-643
    • Franklin, G.M.1    Kahn, L.B.2    Baxter, J.3    Marshall, J.A.4    Hamman, R.F.5
  • 24
    • 0031452699 scopus 로고    scopus 로고
    • Gaucher's disease: Molecular, genetic and enzymological aspects
    • Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Baillieres Clin Haematol 1997; 10: 635-56.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 635-656
    • Grabowski, G.A.1    Horowitz, M.2
  • 25
    • 0034896185 scopus 로고    scopus 로고
    • Impaired inhibitory G-protein function contributes to increased calcium currents in rats with diabetic neuropathy
    • Hall KE, Liu J, Sima AA, Wiley JW. Impaired inhibitory G-protein function contributes to increased calcium currents in rats with diabetic neuropathy. J Neurophysiol 2001; 86: 760-70.
    • (2001) J Neurophysiol , vol.86 , pp. 760-770
    • Hall, K.E.1    Liu, J.2    Sima, A.A.3    Wiley, J.W.4
  • 26
    • 33947374635 scopus 로고    scopus 로고
    • Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
    • Halperin A, Elstein D, Zimran A. Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease? Acta Neurol Scand 2007; 115: 275-8.
    • (2007) Acta Neurol Scand , vol.115 , pp. 275-278
    • Halperin, A.1    Elstein, D.2    Zimran, A.3
  • 27
    • 0029431672 scopus 로고
    • IGPSG Chronic symmetric symptomatic polyneuropathy in the elderly: A field screening investigation in two Italian regions. i Prevalence and general characteristics of the sample
    • IGPSG. Chronic symmetric symptomatic polyneuropathy in the elderly: a field screening investigation in two Italian regions. I. Prevalence and general characteristics of the sample. Neurology 1995; 45: 1832-6.
    • (1995) Neurology , vol.45 , pp. 1832-1836
  • 28
    • 0026050521 scopus 로고
    • Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barre syndrome
    • Kleyweg RP, van der Meche FG, Schmitz PI. Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barre syndrome. Muscle Nerve 1991; 14: 1103-9.
    • (1991) Muscle Nerve , vol.14 , pp. 1103-1109
    • Kleyweg, R.P.1    Van Der Meche, F.G.2    Schmitz, P.I.3
  • 29
    • 0024428161 scopus 로고
    • Prevalence of neuropathy in newly diagnosed NIDDM and nondiabetic control subjects
    • Lehtinen JM, Uusitupa M, Siitonen O, Pyö rä lä K. Prevalence of neuropathy in newly diagnosed NIDDM and nondiabetic control subjects. Diabetes 1989; 38: 1307-13.
    • (1989) Diabetes , vol.38 , pp. 1307-1313
    • Lehtinen, J.M.1    Uusitupa, M.2    Siitonen, O.3    Pyörälä, K.4
  • 31
    • 0038607434 scopus 로고    scopus 로고
    • Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms
    • Lloyd-Evans E, Pelled D, Riebeling C, Bodennec J, de-Morgan A, Waller H, et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem 2003; 278: 23594-9.
    • (2003) J Biol Chem , vol.278 , pp. 23594-23599
    • Lloyd-Evans, E.1    Pelled, D.2    Riebeling, C.3    Bodennec, J.4    De-Morgan, A.5    Waller, H.6
  • 32
    • 33646244471 scopus 로고    scopus 로고
    • Peripheral neuropathy in an outpatient cohort of patients with Sjö gren's syndrome
    • Lopate G, Pestronk A, Al-Lozi M, Lynch T, Florence J, Miller T, et al. Peripheral neuropathy in an outpatient cohort of patients with Sjö gren's syndrome. Muscle Nerve 2006; 33: 672-6.
    • (2006) Muscle Nerve , vol.33 , pp. 672-676
    • Lopate, G.1    Pestronk, A.2    Al-Lozi, M.3    Lynch, T.4    Florence, J.5    Miller, T.6
  • 33
    • 0034105979 scopus 로고    scopus 로고
    • The incidence and lifetime prevalence of neurological disorders in a prospective community-based study in the UK
    • MacDonald BK, Cockerell OC, Sander JW, Shorvon SD. The incidence and lifetime prevalence of neurological disorders in a prospective community-based study in the UK. Brain 2000; 123 (Pt 4): 665-76.
    • (2000) Brain , vol.123 , Issue.PART 4 , pp. 665-676
    • MacDonald, B.K.1    Cockerell, O.C.2    Sander, J.W.3    Shorvon, S.D.4
  • 34
    • 0024454267 scopus 로고
    • The prevalence of peripheral neuropathy in patients with anorexia nervosa
    • MacKenzie JR, LaBan MM, Sackeyfio AH. The prevalence of peripheral neuropathy in patients with anorexia nervosa. Arch Phys Med Rehabil 1989; 70: 827-30.
    • (1989) Arch Phys Med Rehabil , vol.70 , pp. 827-830
    • MacKenzie, J.R.1    Laban, M.M.2    Sackeyfio, A.H.3
  • 35
    • 36549032093 scopus 로고    scopus 로고
    • Utrecht Diabetic Encephalopathy Study Group. Peripheral and central neurologic complications in type 2 diabetes mellitus: No association in individual patients
    • Manschot SM, Biessels GJ, Rutten GE, Kessels RP, Gispen WH, Kappelle LJ. Utrecht Diabetic Encephalopathy Study Group. Peripheral and central neurologic complications in type 2 diabetes mellitus: no association in individual patients. J Neurol Sci 2008; 264: 157-62.
    • (2008) J Neurol Sci , vol.264 , pp. 157-162
    • Manschot, S.M.1    Biessels, G.J.2    Rutten, G.E.3    Kessels, R.P.4    Gispen, W.H.5    Kappelle, L.J.6
  • 36
    • 0034701011 scopus 로고    scopus 로고
    • Psychometric evaluation of a new sensory scale in immune-mediated polyneuropa-thies
    • Inflammatory Neuropathy Cause and Treatment (INCAT) Group
    • Merkies IS, Schmitz PI, van der Meche FG, van Doorn PA. Psychometric evaluation of a new sensory scale in immune-mediated polyneuropa-thies. Inflammatory Neuropathy Cause and Treatment (INCAT) Group. Neurology 2000; 54: 943-9.
    • (2000) Neurology , vol.54 , pp. 943-949
    • Merkies, I.S.1    Schmitz, P.I.2    Van Der Meche, F.G.3    Van Doorn, P.A.4
  • 38
    • 0035062701 scopus 로고    scopus 로고
    • Chronic polyneuropathies in Vest-Agder, Norway
    • Mygland A, Monstad P. Chronic polyneuropathies in Vest-Agder, Norway. Eur J Neurol 2001; 8: 157-65.
    • (2001) Eur J Neurol , vol.8 , pp. 157-165
    • Mygland, A.1    Monstad, P.2
  • 39
    • 79955666596 scopus 로고    scopus 로고
    • Correlation of epidermal nerve fiber density with pain-related evoked potentials in HIV neuropathy
    • Obermann M, Katsarava Z, Esser S, Sommer C, He L, Selter L, et al. Correlation of epidermal nerve fiber density with pain-related evoked potentials in HIV neuropathy. Pain 2008; 138: 79-86.
    • (2008) Pain , vol.138 , pp. 79-86
    • Obermann, M.1    Katsarava, Z.2    Esser, S.3    Sommer, C.4    He, L.5    Selter, L.6
  • 40
    • 33747409804 scopus 로고    scopus 로고
    • Guidelines in electrodiagnostic medicine. Consensus criteria for the diagnosis of partial conduction block. American Association of Electrodiagnostic Medicine
    • Olney RK. Guidelines in electrodiagnostic medicine. Consensus criteria for the diagnosis of partial conduction block. American Association of Electrodiagnostic Medicine. Muscle Nerve Suppl 1999; 8: S225-9.
    • (1999) Muscle Nerve Suppl , vol.8
    • Olney, R.K.1
  • 42
    • 0020308952 scopus 로고
    • Research protocol for measuring the prevalence of neurological disorders in developing countries. Results of a pilot study in Nigeria
    • Osuntokun BO, Schoenberg BS, Nottidge VA, Adeuja A, Kale O, Adeyefa A, et al. Research protocol for measuring the prevalence of neurological disorders in developing countries. Results of a pilot study in Nigeria. Neuroepidemiology 1982; 1: 143-53.
    • (1982) Neuroepidemiology , vol.1 , pp. 143-153
    • Osuntokun, B.O.1    Schoenberg, B.S.2    Nottidge, V.A.3    Adeuja, A.4    Kale, O.5    Adeyefa, A.6
  • 47
    • 34249780402 scopus 로고    scopus 로고
    • Hospital-referred polyneuropathies\causes, prevalences, clinical\and neurophysiological findings
    • Rudolph T, Farbu E. Hospital-referred polyneuropathies\causes, prevalences, clinical\and neurophysiological findings. Eur J Neurol 2007; 14: 603-8.
    • (2007) Eur J Neurol , vol.14 , pp. 603-608
    • Rudolph, T.1    Farbu, E.2
  • 48
    • 46749143358 scopus 로고    scopus 로고
    • Review of peripheral neuropathy in plasma cell disorders
    • Silberman J, Lonial S. Review of peripheral neuropathy in plasma cell disorders. Hematol Oncol 2008; 26: 55-65.
    • (2008) Hematol Oncol , vol.26 , pp. 55-65
    • Silberman, J.1    Lonial, S.2
  • 49
    • 0037331225 scopus 로고    scopus 로고
    • Foot complications in Type 2 diabetes: An Australian population-based study
    • AusDiab Study Group.
    • Tapp RJ, Shaw JE, de Courten MP, Dunstan DW, Welborn TA, Zimmet PZ. AusDiab Study Group. Foot complications in Type 2 diabetes: an Australian population-based study. Diabet Med 2003; 20: 105-13.
    • (2003) Diabet Med , vol.20 , pp. 105-113
    • Tapp, R.J.1    Shaw, J.E.2    De Courten, M.P.3    Dunstan, D.W.4    Welborn, T.A.5    Zimmet, P.Z.6
  • 51
    • 0030668882 scopus 로고    scopus 로고
    • Prevalence of chronic diseases in older Italians: Comparing self-reported and clinical diagnoses
    • The Italian Longitudinal Study on Aging Working Group
    • The Italian Longitudinal Study on Aging Working Group. Prevalence of chronic diseases in older Italians: comparing self-reported and clinical diagnoses. Int J Epidemiol 1997; 26: 995-1002.
    • (1997) Int J Epidemiol , vol.26 , pp. 995-1002
  • 52
    • 71049153213 scopus 로고    scopus 로고
    • The natural history of Charcot-Marie-tooth type 1A in adults: A 5-year follow-up study
    • Verhamme C, van Schaik IN, Koelman JHTM, de Haan RJ, de Visser M. The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain 2009; 132: 3252-3262.
    • (2009) Brain , vol.132 , pp. 3252-3262
    • Verhamme, C.1    Van Schaik, I.N.2    Jhtm, K.3    De Haan, R.J.4    De Visser, M.5
  • 53
    • 0027533622 scopus 로고
    • Clinical, neurophysiological and immunological evidence of polyneur-opathy in patients with monoclonal gammopathies
    • Vrethem M, Cruz M, Wen-Xin H, Malm C, Holmgren H, Ernerudh J. Clinical, neurophysiological and immunological evidence of polyneur-opathy in patients with monoclonal gammopathies. J Neurol Sci 1993; 114: 193-9.
    • (1993) J Neurol Sci , vol.114 , pp. 193-199
    • Vrethem, M.1    Cruz, M.2    Wen-Xin, H.3    Malm, C.4    Holmgren, H.5    Ernerudh, J.6
  • 55
    • 30844473761 scopus 로고    scopus 로고
    • Calcium channels as therapeutic targets in neuropathic pain
    • Yaksh TL. Calcium channels as therapeutic targets in neuropathic pain. J Pain 2006; 7: S13-30.
    • (2006) J Pain , vol.7
    • Yaksh, T.L.1
  • 56
    • 17944366278 scopus 로고    scopus 로고
    • Italian General Practitioner Study Group. Arterial hypertension as a risk factor for chronic symmetric polyneuropathy
    • Zarrelli MM, Amoruso L, Beghi E, Apollo F, Di Viesti P, Simone P. Italian General Practitioner Study Group. Arterial hypertension as a risk factor for chronic symmetric polyneuropathy. J Epidemiol Biostat. 2001; 6: 409-13.
    • (2001) J Epidemiol Biostat. , vol.6 , pp. 409-413
    • Zarrelli, M.M.1    Amoruso, L.2    Beghi, E.3    Apollo, F.4    Di Viesti, P.5    Simone, P.6
  • 57
    • 44449144074 scopus 로고    scopus 로고
    • Prevalence of polyneuropathy in pre-diabetes and diabetes is associated with abdominal obesity and macroangiopathy: The MONICA/KORA Augsburg Surveys S2 and S3
    • Ziegler D, Rathmann W, Dickhaus T, Meisinger C, Mielck A. KORA Study Group. Prevalence of polyneuropathy in pre-diabetes and diabetes is associated with abdominal obesity and macroangiopathy: the MONICA/KORA Augsburg Surveys S2 and S3. Diabetes Care 2008; 31: 464-9.
    • (2008) Diabetes Care , vol.31 , pp. 464-469
    • Ziegler, D.1    Rathmann, W.2    Dickhaus, T.3    Meisinger, C.4    Mielck, A.5


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