Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11.5%) with gluten sensitivity underwent duodenal biopsy and extensive clinical, electrophysiological, neuropsychological, radiological and laboratory investigations including human leucocyte antigen (HLA) typing. Two patients showed typical changes of gluten-sensitive enteropathy with crypt hyperplasia and mucosal flattening. In five patients, the intraepithelial lymphocyte count was elevated. Sporadic ataxia with gluten sensitivity was found to be tightly linked to the HLA DQB1*0201 haplotype (70%). Neurological symptoms were not related to hypovitaminosis or inflammatory CSF changes. The clinical syndrome was dominated by progressive cerebellar ataxia with ataxia of stance and gait (100%), dysarthria (100%) and limb ataxia (97%). Oculomotor abnormalities were gaze-evoked nystagmus (66.7%), spontaneous nystagmus (33.3%), saccade slowing (25%) and upward gaze palsy (16.7%). Extracerebellar features also included deep sensory loss (58.3%), bladder dysfunction (33.3%) and reduced ankle reflexes (33.3%). In accordance with clinical findings, electrophysiological investigations revealed prominent axonal neuropathy with reduced amplitudes (50%) and abnormal evoked potentials (58.3%). On neuropsychological testing, patients presented with moderate verbal memory and executive dysfunction. All patients had evidence of cerebellar atrophy on MRI. We conclude that sporadic ataxia may be associated with positive antibodies against gliadin. Nevertheless, mucosal pathology does not represent an obligatory condition of ataxia with gluten sensitivity. The fact that the disease is strongly associated with the same HLA haplotypes found in coeliac disease not only demonstrates coeliac disease and ataxia with gluten sensitivity to be part of the same disease entity but supports the hypothesis of an immunological pathogenesis of cerebellar degeneration.
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PMID:Sporadic cerebellar ataxia associated with gluten sensitivity. 1133 3

Many neurological syndromes associated with antigliadin antibodies have been published. The most frequent are cerebellar ataxia and peripheral neuropathy. Such cases are reported under the title of gluten ataxia or of coeliac neuropathy. However, associations do not prove cause. Herein, a short review is made of the literature and the author's personal experience. Many unsolved questions remain. Gluten sensitivity is probably an immunological response in genetically susceptible individuals with or without enteropathy. Antigliadin antibodies are present in healthy adults, in some idiopathic ataxias and neuropathies. A gluten-free diet is effective on gastrointestinal but not on neurological symptoms. Whether antigliadin antibodies are elevated is more of a waiting classification than a definite diagnosis. Finally, the relationship between antigliadin antibodies and neurological diseases is very weak.
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PMID:Neuromuscular diseases associated with antigliadin antibodies. A contentious concept. 1593 71

Celiac sprue is a gluten sensitive enteropathy in which there is a small bowel villous atrophy associated with gastrointestinal and extraintestinal symptoms. True prevalence is difficult to ascertain because many patients have atypical symptoms or none at all. Few children display CNS symptoms such as peripheral neuropathy and cerebellar ataxia. So far, stroke in posterior circulation territory as a presentation for celiac disease has not been reported. We report a 15-year-old male patient who presented as Wallenberg syndrome without any positive medical history. Brain MRI confirmed infarction, and magnetic resonance angiography showed vertebral artery stenosis. Laboratory findings revealed anemia and positive serologic tests for celiac disease, and duodenal biopsy confirmed the disease. In any children with symptoms of vertebrobasilar insufficiency, celiac disease as a treatable cause must be considered.
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PMID:Wallenberg syndrome as a sole presentation of celiac disease. 2106 17

Gluten sensitivity is a systemic autoimmune disease that occurs in genetically susceptible individuals on ingesting gluten. It can appear at any age, then becoming a permanent condition. It is more frequent in women, as happens with other autoimmune diseases. Celiac disease is the intestinal form and the most important manifestation among a set of gluten-induced autoimmune pathologies that affect different systems. Neurological manifestations of gluten sensitivity, with or without enteropathy, are also frequent, their pathogenesis including an immunological attack on the central and peripheral nervous tissue accompanied by neurodegenerative changes. The clinical manifestations are varied, but the most common syndromes are cerebellar ataxia and peripheral neuropathy. Finally, gluten sensitivity is associated to a varying degree, with other complex diseases and could influence their evolution. The early detection of cases of gluten sensitivity with neurological manifestations and subsequent treatment with the gluten-free diet could provide remarkable benefits to the patients.
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PMID:[Neurological disorders associated with gluten sensitivity]. 2179 7

Celiac disease (CD), also known as gluten-sensitive enteropathy, is a prevalent auto-immune disorder. The silent form of CD seems to be more frequent than expected. CD has been associated with neurologic and psychiatric disorders, notably cerebellar ataxia, peripheral neuropathy, epilepsy, dementia and depression. Migraine is a rare complication of CD. We report a case of CD revealed by a migraine. Apparently no case of celiac disease revealed by migraine has been reported in the literature.
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PMID:A migraine as initial presentation of celiac disease. 2240 55

Acute ataxia is not an uncommon childhood complaint. It most commonly occurs in young patients secondary to a postinfectious cerebellitis, which is typically associated with a very good prognosis and recovery. In adolescence, acute cerebellar ataxia is more often the product of an etiology likely to progress into a chronic disorder without recovery to preillness baseline. In the present case, the authors describe a 15-year-old girl with subacute cerebellar ataxia of presumed immune-mediated etiology that advanced into a chronic cerebellar ataxia. Due to a family history, celiac disease was suspected as the origin of the ataxia; biopsy ruled out enteropathy, and the severe, abrupt radiological changes to the patient's cerebellum are inconsistent with the reported sequelae of gluten ataxia. This case serves as a discussion for diagnostic challenges in adolescent patients with acute cerebellar ataxia with long-term sequelae as well as providing an adjunct discussion on the neurological complications of celiac disease.
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PMID:Case report of subacute cerebellar ataxia of adolescence with long-term sequelae. 2303 74

Celiac disease--in its typical form--is a chronic immune-mediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.
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PMID:LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. 2508 81