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  1. Article: Recognition and management of rapid-onset gluten ataxias: case series.

    Newrick, Laurence / Hoggard, Nigel / Hadjivassiliou, Marios

    Cerebellum & ataxias

    2021  Volume 8, Issue 1, Page(s) 16

    Abstract: Background: Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progression outside the context of ... ...

    Abstract Background: Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progression outside the context of paraneoplastic cerebellar degeneration require prompt diagnosis and early access to disease-modifying immunotherapy in order to avert severe and permanent neurological disability.
    Case presentations: We describe three cases of rapid-onset Gluten Ataxia, an immune-mediated cerebellar ataxia due to gluten sensitivity. We detail their presentation, clinical and neuroimaging findings, and our treatment strategy with immunotherapy.
    Conclusions: Our cases highlight the potential for immune-mediated cerebellar ataxias to present acutely, with rapid-onset symptoms and devastating neurological consequences. We caution against the diagnosis of 'post-infective cerebellitis' in adults, and advocate early consideration of an immune-mediated cerebellar ataxia and initiation of immunotherapy to prevent irreversible cerebellar damage.
    Language English
    Publishing date 2021-06-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2775181-8
    ISSN 2053-8871
    ISSN 2053-8871
    DOI 10.1186/s40673-021-00139-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Late-onset ataxia telangiectasia.

    Newrick, Laurence / Sharrack, Noor / Hadjivassiliou, Marios

    Neurology. Clinical practice

    2018  Volume 4, Issue 4, Page(s) 365–367

    Language English
    Publishing date 2018-02-23
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2645818-4
    ISSN 2163-0933 ; 2163-0402
    ISSN (online) 2163-0933
    ISSN 2163-0402
    DOI 10.1212/CPJ.0000000000000008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Pseudodominant AOA2.

    Newrick, Laurence / Taylor, Malcolm / Hadjivassiliou, Marios

    Cerebellum & ataxias

    2015  Volume 2, Page(s) 5

    Abstract: We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance ... ...

    Abstract We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the unusual coincidence of both mother and daughter being compound heterozygotes for senataxin mutations. Our case exemplifies the challenges of diagnosis in hereditary ataxias, and the limitations of genetic testing guided solely by patterns of inheritance.
    Language English
    Publishing date 2015-04-30
    Publishing country England
    Document type Case Reports
    ZDB-ID 2775181-8
    ISSN 2053-8871
    ISSN 2053-8871
    DOI 10.1186/s40673-015-0024-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: A UK study assessing the population prevalence of self-reported gluten sensitivity and referral characteristics to secondary care.

    Aziz, Imran / Lewis, Nina R / Hadjivassiliou, Marios / Winfield, Stefanie N / Rugg, Nathan / Kelsall, Alan / Newrick, Laurence / Sanders, David S

    European journal of gastroenterology & hepatology

    2014  Volume 26, Issue 1, Page(s) 33–39

    Abstract: Background: Reports suggest that gluten sensitivity (GS) exists in the absence of coeliac disease (CD). This clinical entity has been termed noncoeliac gluten sensitivity (NCGS).: Objectives: To determine the population prevalence of self-reported GS ...

    Abstract Background: Reports suggest that gluten sensitivity (GS) exists in the absence of coeliac disease (CD). This clinical entity has been termed noncoeliac gluten sensitivity (NCGS).
    Objectives: To determine the population prevalence of self-reported GS and referral characteristics to secondary care.
    Patients and methods: A UK population-based questionnaire screened for GS and related symptoms. Diagnostic outcomes were also analyzed in patients referred to secondary care with GS. CD diagnosis entailed a positive coeliac serology (endomysial and/or tissue transglutaminase antibodies) plus Marsh 1-3 on duodenal biopsies. NCGS diagnosis was based on exclusion of CD. Clinical comparisons were made between NCGS and CD.
    Results: A total of 1002 adults in the population (female 55%, mean age 39 years). The self-reported prevalence for GS was 13% (female 79%, mean age 39.5 years, P<0.0001), with 3.7% consuming a gluten-free diet and 0.8% known to have a doctor diagnosis of CD. Individuals with GS had an increased prevalence of fulfilling the Rome III criteria for irritable bowel syndrome, in comparison with those without GS (20 vs. 3.89%, odds ratio 6.23, P<0.0001).In secondary care 200 GS patients (female 84%, mean age 39.6 years) were investigated, in whom 7% were found to have CD and 93% to have NCGS. All CD patients were human leucocyte antigen DQ2 or DQ8 positive compared with 53% of NCGS cases (P=0.0003). Nutritional deficiencies (P≤0.003), autoimmune disorders (23.1 vs. 9.7%, P=0.0001) and a lower mean BMI (23.7 vs. 25.8, P=0.001) were significantly associated with CD compared with NCGS.
    Conclusion: GS is commonly self-reported with symptoms suggesting an association with irritable bowel syndrome. The majority of patients have NCGS, an entity which demonstrates clinical and immunologic difference to CD.
    MeSH term(s) Adult ; Autoantibodies/blood ; Biopsy ; Celiac Disease/classification ; Celiac Disease/diagnosis ; Celiac Disease/diet therapy ; Celiac Disease/epidemiology ; Diet, Gluten-Free ; Duodenum/pathology ; Female ; Food Hypersensitivity/classification ; Food Hypersensitivity/diagnosis ; Food Hypersensitivity/diet therapy ; Food Hypersensitivity/epidemiology ; GTP-Binding Proteins ; Glutens/adverse effects ; Humans ; Irritable Bowel Syndrome/diagnosis ; Irritable Bowel Syndrome/epidemiology ; Male ; Middle Aged ; Predictive Value of Tests ; Prevalence ; Referral and Consultation ; Risk Factors ; Secondary Care ; Self Report ; Serologic Tests ; Transglutaminases/immunology ; United Kingdom/epidemiology ; Young Adult
    Chemical Substances Autoantibodies ; Glutens (8002-80-0) ; transglutaminase 2 (EC 2.3.2.-) ; Transglutaminases (EC 2.3.2.13) ; GTP-Binding Proteins (EC 3.6.1.-)
    Language English
    Publishing date 2014-01
    Publishing country England
    Document type Comparative Study ; Journal Article
    ZDB-ID 1034239-4
    ISSN 1473-5687 ; 0954-691X
    ISSN (online) 1473-5687
    ISSN 0954-691X
    DOI 10.1097/01.meg.0000435546.87251.f7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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