Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact
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ORIGINAL ARTICLE
Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact M. Hadjivassiliou 1 N. Hoggard 1,2
&
P. G. Sarrigiannis 1 & P. D. Shanmugarajah 1 & D. S. Sanders 1 & R. A. Grünewald 1 & P. Zis 1 &
Accepted: 11 October 2020 # The Author(s) 2020
Abstract The objective of this study is to report the clinical characteristics and treatment of patients with progressive cerebellar ataxia associated with anti-GAD antibodies. We performed a retrospective review of all patients with anti-GAD ataxia managed at the Sheffield Ataxia Centre over the last 25 years. We identified 50 patients (62% females) with anti-GAD ataxia. The prevalence was 2.5% amongst 2000 patients with progressive ataxia of various causes. Mean age at onset was 55 and mean duration 8 years. Gaze-evoked nystagmus was present in 26%, cerebellar dysarthria in 26%, limb ataxia in 44% and gait ataxia in 100%. Nine patients (18%) had severe, 12 (24%) moderate and 29 (58%) mild ataxia. Ninety percent of patients had a history of additional autoimmune diseases. Family history of autoimmune diseases was seen in 52%. Baseline MR spectroscopy of the vermis was abnormal at presentation in 72%. Thirty-five patients (70%) had serological evidence of gluten sensitivity. All 35 went on gluten-free diet (GFD). Eighteen (51%) improved, 13 (37%) stabilised, 3 have started the GFD too recently to draw conclusions and one deteriorated. Mycophenolate was used in 16 patients, 7 (44%) improved, 2 stabilised, 6 have started the medication too recently to draw conclusions and one did not tolerate the drug. There is considerable overlap between anti-GAD ataxia and gluten ataxia. For those patients with both, strict GFD alone can be an effective treatment. Patients with anti-GAD ataxia and no gluten sensitivity respond well to immunosuppression. Keywords Anti-GAD Ataxia . Gluten Ataxia . Gluten Free Diet . MR Spectroscopy . Immune Ataxia
Introduction Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). GAD is found in both the central and peripheral nervous systems (including the enteric nervous system) as well as in pancreatic beta cells [1]. Antibodies against pancreatic islet cell proteins were first detected in children with insulin-dependent diabetes mellitus
* M. Hadjivassiliou [email protected] 1
Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust, Glossop Road, Sheffield S10 2JF, UK
2
Academic Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust, Sheffield, UK
(IDDM) and were subsequently characterised as GAD antibodies [2–4]. Two major types of GAD enzyme exist, GAD65 and GAD67. These catalyse the formation of GABA at different cell locations and different time periods of development. The GAD67 enzyme is widespread in the central nervous system, whilst GAD65 is confined to nerve terminals. GABA is
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