scholarly journals Cerebellar Ataxia, An Unusual Neurological Manifestation of Coeliac Disease- A Case Study

2016 ◽  
Vol 32 (1) ◽  
pp. 43-46
Author(s):  
- Md Raknuzzaman ◽  
Abdul Kader Sheikh ◽  
Hasan Zhahidur Rahman ◽  
SK Mahbub Alam ◽  
Saifullah Ahthesam ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Coeliac Disease ◽  
Cerebellar Ataxia ◽  
Late Onset ◽  
Villous Atrophy ◽  
Tissue Transglutaminase ◽  
Normal Population ◽  
Autoimmune Disorder ◽  
Progressive Cerebellar Ataxia ◽  
Gluten Sensitive Enteropathy

Coeliac disease was considered as a gluten sensitive enteropathy but now due to its wide clinical presentation is considered as multisystem autoimmune disorder. Ataxia with peripheral neuropathy is a rare manifestation of gluten sensitivity. The presence of glutenrelated immune markers in normal population however complicates the reliable diagnosis of gluten related neurological disorders and clinical improvement on gluten free diet can serve as a diagnostic tool for this disease. We report a case of sporadic progressive cerebellar ataxia with peripheral neuropathy with positive anti tissue transglutaminase (antitTG) antibodies and subtotal villous atrophy in duodenal biopsy. This case highlights an important diagnostic and therapeutic principle in management of late onset idiopathic ataxia. Bangladesh Journal of Neuroscience 2016; Vol. 32 (1): 43-46

scholarly journals Testing for Antireticulin Antibodies in Patients with Celiac Disease Is Obsolete: a Review of Recommendations for Serologic Screening and the Literature

2013 ◽  
Vol 20 (4) ◽  
pp. 447-451 ◽  
Author(s):  
Sarada L. Nandiwada ◽  
Anne E. Tebo
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Diagnostic Use ◽  
Gliadin Peptide ◽  
Gluten Sensitive Enteropathy ◽  
Serologic Screening ◽  
Related Proteins ◽  
Hla Dq2

ABSTRACTCeliac disease (CD) is an autoimmune disorder that occurs in genetically susceptible individuals of all ages and is triggered by immune response to gluten and related proteins. The disease is characterized by the presence of HLA-DQ2 and/or -DQ8 haplotypes, diverse clinical manifestations, gluten-sensitive enteropathy, and production of several autoantibodies of which endomysial, tissue transglutaminase, and deamidated gliadin peptide antibodies are considered specific. Although antireticulin antibodies (ARA) have historically been used in the evaluation of CD, these assays lack optimal sensitivities and specificities for routine diagnostic use. This minireview highlights the advances in CD-specific serologic testing and the rationale for eliminating ARA from CD evaluation consistent with recommendations for diagnosis.

Symposium 1: Joint BAPEN and British Society of Gastroenterology Symposium on ‘Coeliac disease: basics and controversies’ Coeliac disease in the twenty-first century

2009 ◽  
Vol 68 (3) ◽  
pp. 234-241 ◽  
Author(s):  
William Dickey
Keyword(s):  
Coeliac Disease ◽  
Villous Atrophy ◽  
Tissue Transglutaminase ◽  
Disease Process ◽  
Histological Change ◽  
Intraepithelial Lymphocytes ◽  
British Society ◽  
Serological Testing ◽  
Multisystem Disorder ◽  
Number Of Patients

Coeliac disease (CD), traditionally perceived as a rare childhood condition presenting with malabsorption, is instead an autoimmune multisystem disorder usually presenting in adulthood, affecting ⩾1% of the population and linked to the genetic expression of human leucocyte antigens (HLA) DQ2 and DQ8. Presentation occurs most often in the 40–60 years age-group, but potentially at any age. Symptoms attributable to the gut or to malabsorption may be mild, non-specific or absent; under one-third of patients have diarrhoea and almost half are overweight. Histological diagnosis no longer requires small intestine villous atrophy. The Marsh classification recognizes increased intraepithelial lymphocytes and crypt hyperplasia with intact villi as part of the gluten enteropathy spectrum, while some individuals have more subtle abnormalities identified only on electron microscopy. Serological testing for CD autoantibodies (to endomysium and tissue transglutaminase) has revolutionized diagnosis, shifting the process towards primary care. However, a substantial number of patients with CD are seronegative, particularly those without villous atrophy. The autoantibody to endomysium may be produced before histological change. The immune response to transglutaminase is crucial to the disease process. An exciting new development is the link between antibodies to organ-specific transglutaminases and clinical presentation; transglutaminases 2 (gut), 3 (skin) and 6 (nervous system). Negative testing for CD does not preclude its development later and HLA testing may allow ‘once and for all’ exclusion. In conclusion, an increasing proportion of patients with CD do not meet the ‘classic’ picture of malabsorption, positive serological testing and villous atrophy. Insisting on all these criteria for diagnosis will result in under diagnosis.

scholarly journals A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

2019 ◽  
Vol 8 (6) ◽  
pp. 789 ◽  
Author(s):  
Charlotte M. Zierz ◽  
Karen Baty ◽  
Emma L. Blakely ◽  
Sila Hopton ◽  
Gavin Falkous ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Cerebellar Ataxia ◽  
Dna Analysis ◽  
Late Onset ◽  
Axonal Neuropathy ◽  
Low Frequency ◽  
Complex Iv ◽  
Progressive Cerebellar Ataxia ◽  
Electrophysiological Studies ◽  
History Of

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. Although her muscle biopsy demonstrated a significant COX deficiency, there was no clinical and electromyographical evidence of myopathy. Electrophysiological studies identified low frequency sinusoidal postural tremor at 3 Hz, corroborating the clinical finding of cerebellar dysfunction. Complete sequencing of the mitochondrial DNA genome in muscle identified a novel MT-CO2 variant, m.8163A>G predicting p.(Tyr193Cys). We present several lines of evidence, in proving the pathogenicity of this heteroplasmic mitochondrial DNA variant, as the cause of her clinical presentation. Our findings serve as an important reminder that full mitochondrial DNA analysis should be included in the diagnostic pipeline for investigating individuals with spinocerebellar ataxia.

scholarly journals Coeliac Disease in a Girl: A Case Report

2013 ◽  
Vol 5 (1) ◽  
pp. 55-58
Author(s):  
Nazma Begum ◽  
Soofia Khatoon ◽  
Subrata Deb ◽  
Shamima Sultana
Keyword(s):  
Case Report ◽  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Growth Failure ◽  
Autoimmune Disorder ◽  
The Body ◽  
Chronic Diarrhoea ◽  
Histopathological Diagnosis ◽  
Organ Systems ◽  
Short Period

Coeliac disease is an autoimmune disorder that occurs in genetically predisposed people of all ages from middle infancy to onwards. It is a disease in which the mucosal lining of the small intestine is damaged in response to ingestion of gluten and similar proteins, which are found in wheat, oats, rye, barley and other grains. Symptoms include chronic diarrhoea, failure to thrive and fatigue; however these may be absent and symptoms in other organ systems have been reported. In this case report, a 6 year-old girl presented with recurrent diarrhoea with growth failure and itchy skin rashes. Physical examination showed that the patient was moderately pale and had generalized oedema with discrete erythematous, papular lesions over different parts of the body. Serum for tissue transglutaminase (IgA) antibody was raised. Duodenal biopsy was obtained and histopathological diagnosis was compatible with coeliac disease. The patient was treated with supportive management and was advised for life long gluten free diet. The patient improved within short period after withdrawal of gluten from diet. DOI: http://dx.doi.org/10.3329/jssmc.v5i1.16254 J Shaheed Suhrawardy Med Coll, 2013;5(1):55-58

The genetic aetiology of late-onset chronic progressive cerebellar ataxia

2009 ◽  
Vol 256 (3) ◽  
pp. 343-348 ◽  
Author(s):  
Mark Wardle ◽  
Elisa Majounie ◽  
Mustapha B. Muzaimi ◽  
Nigel M. Williams ◽  
Huw R. Morris ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Progressive Cerebellar Ataxia

HLA-DQ2 and/or-DQ9 is associated with coeliac disease specific autoantibodies to tissue transglutaminase in families with thyrold autoimmunity

2001 ◽  
Vol 120 (5) ◽  
pp. A393-A393
Author(s):  
D SCHUPPAN ◽  
W DIETERICH ◽  
S HOFMANN ◽  
M HUEFNER ◽  
K USADEL ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Disease Specific ◽  
Hla Dq2

Tissue transglutaminase and coeliac disease

Endoscopy ◽  
2006 ◽  
Vol 37 (12) ◽  
Author(s):  
E Thornton ◽  
M Lynskey ◽  
J Donlon ◽  
F Stevens
Keyword(s):  
Coeliac Disease ◽  
Tissue Transglutaminase

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

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