Gluten ataxia in perspective:: epidemiology, genetic susceptibility and clinical characteristics

被引:172
作者
Hadjivassiliou, M
Grünewald, R
Sharrack, B
Sanders, D
Lobo, A
Williamson, C
Woodroofe, N
Wood, N
Davies-Jones, A
机构
[1] Royal Hallamshire Hosp, Dept Neurol, Sheffield S10 2JF, S Yorkshire, England
[2] Royal Hallamshire Hosp, Dept Gastroenterol, Sheffield S10 2JF, S Yorkshire, England
[3] Sheffield Hallam Univ, Div Biomed Sci, Sheffield S1 1WB, S Yorkshire, England
[4] UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Pathogenesis, London WC1N 3BG, England
关键词
gluten ataxia; prevalence; gluten sensitivity; coeliac disease;
D O I
10.1093/brain/awg050
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may account for a large number of patients with sporadic idiopathic ataxia. We have therefore investigated the prevalence of gluten sensitivity amongst a large cohort of patients with sporadic and familial ataxia and looked at possible genetic predisposition to gluten sensitivity amongst these groups. Two hundred and twenty-four patients with various causes of ataxia from North Trent (59 familial and/or positive testing for spinocerebellar ataxias 1, 2, 3, 6 and 7, and Friedreich's ataxia, 132 sporadic idiopathic and 33 clinically probable cerebellar variant of multiple system atrophy MSA-C) and 44 patients with sporadic idiopathic ataxia from The Institute of Neurology, London, were screened for the presence of antigliadin antibodies. A total of 1200 volunteers were screened as normal controls. The prevalence of antigliadin antibodies in the familial group was eight out of 59 (14%), 54 out of 132 (41%) in the sporadic idiopathic group, five out of 33 (15%) in the MSA-C group and 149 out of 1200 (12%) in the normal controls. The prevalence in the sporadic idiopathic group from London was 14 out of 44 (32%). The difference in prevalence between the idiopathic sporadic groups and the other groups was highly significant (P < 0.0001 and P < 0.003, respectively). The clinical characteristics of 68 patients with gluten ataxia were as follows: the mean age at onset of the ataxia was 48 years (range 14-81 years) with a mean duration of the ataxia of 9.7 years (range 1-40 years). Ocular signs were observed in 84% and dysarthria in 66%. Upper limb ataxia was evident in 75%, lower limb ataxia in 90% and gait ataxia in 100% of patients. Gastrointestinal symptoms were present in only 13%. MRI revealed atrophy of the cerebellum in 79% and white matter hyperintensities in 19%. Forty-five percent of patients had neurophysiological evidence of a sensorimotor axonal neuropathy. Gluten-sensitive enteropathy was found in 24%. HLA DQ2 was present in 72% of patients. Gluten ataxia is therefore the single most common cause of sporadic idiopathic ataxia. Antigliadin antibody testing is essential at first presentation of patients with sporadic ataxia.
引用
收藏
页码:685 / 691
页数:7
相关论文
共 21 条
[1]   The aetiology of sporadic adult-onset ataxia [J].
Abele, M ;
Bürk, K ;
Schöls, L ;
Schwartz, S ;
Besenthal, I ;
Dichgans, J ;
Zühlke, C ;
Riess, O ;
Klockgether, T .
BRAIN, 2002, 125 :961-968
[2]   Sporadic cerebellar ataxia associated with gluten sensitivity [J].
Bürk, K ;
Bösch, S ;
Müller, CA ;
Melms, A ;
Zühlke, C ;
Stern, M ;
Besenthal, I ;
Skalej, M ;
Ruck, P ;
Ferber, S ;
Klockgether, T ;
Dichgans, J .
BRAIN, 2001, 124 :1013-1019
[3]   Gluten sensitivity in sporadic and hereditary cerebellar ataxia [J].
Bushara, KO ;
Goebel, SU ;
Shill, H ;
Goldfarb, LG ;
Hallett, M .
ANNALS OF NEUROLOGY, 2001, 49 (04) :540-543
[4]   CSF antigliadin antibodies and the Ramsay Hunt syndrome [J].
Chinnery, PF ;
Reading, PJ ;
Milne, D ;
GardnerMedwin, D ;
Turnbull, DM .
NEUROLOGY, 1997, 49 (04) :1131-1133
[5]   Celiac disease and idiopathic cerebellar ataxia [J].
Combarros, O ;
Infante, J ;
López-Hoyos, M ;
Bartolomé, MJ ;
Berciano, J ;
Corral, J ;
Volpini, V .
NEUROLOGY, 2000, 54 (12) :2346-2346
[6]   NEUROLOGICAL DISORDERS ASSOCIATED WITH ADULT COELIAC DISEASE [J].
COOKE, WT ;
SMITH, WT .
BRAIN, 1966, 89 :683-+
[7]   Current approaches to diagnosis and treatment of celiac disease: An evolving spectrum [J].
Fasano, A ;
Catassi, C .
GASTROENTEROLOGY, 2001, 120 (03) :636-651
[8]   Consensus statement on the diagnosis of multiple system atrophy [J].
Gilman, S ;
Low, PA ;
Quinn, N ;
Albanese, A ;
Ben-Shlomo, Y ;
Fowler, CJ ;
Kaufman, H ;
Klockgether, T ;
Lang, AE ;
Lantos, PL ;
Litvan, I ;
Mathias, CJ ;
Oliver, E ;
Robertson, D ;
Schatz, I ;
Wenning, GK .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1999, 163 (01) :94-98
[9]   Gluten sensitivity:: a many headed hydra -: Heightened responsiveness to gluten is not confined to the gut [J].
Hadjivassiliou, M ;
Grünewald, RA ;
Davies-Jones, GAB .
BMJ-BRITISH MEDICAL JOURNAL, 1999, 318 (7200) :1710-1711
[10]   Clinical, radiological, neurophysiological, and neuropathological characteristics of gluten ataxia [J].
Hadjivassiliou, M ;
Grünewald, R ;
Chattopadhyay, AK ;
Davies-Jones, GAB ;
Gibson, A ;
Jarratt, JA ;
Kandler, RH ;
Lobo, A ;
Powell, T ;
Smith, CML .
LANCET, 1998, 352 (9140) :1582-1585