Spinocerebellar degeneration secondary to chronic intestinal malabsorption: A vitamin E deficiency syndrome

Harding, A. E.; Muller, D. P. R.; Thomas, P. K.; Willison, Hugh J.

doi:10.1002/ana.410120503

Cited by 144 publications

(38 citation statements)

References 28 publications

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“…The first reports emphasized the role of vitamin E deficiency in these patients. 33,34 Subsequently, there was a study that reported a patient who had cerebellar syndrome with no evidence of nutritional deficits. 6 During the last decade, there was a general trend to adopt the concept that in many cases, an immunologic mechanism underlies the brain damage, including 1 case in which magnetic resonance imaging studies clearly demonstrated cerebellar (and cerebral) lesions.…”

Section: Discussionmentioning

confidence: 99%

Range of Neurologic Disorders in Patients With Celiac Disease

et al. 2004

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ABSTRACT. Objective. During the past 2 decades, celiac disease (CD) has been recognized as a multisystem autoimmune disorder. A growing body of distinct neurologic conditions such as cerebellar ataxia, epilepsy, myoclonic ataxia, chronic neuropathies, and dementia have been reported, mainly in middle-aged adults. There still are insufficient data on the association of CD with various neurologic disorders in children, adolescents, and young adults, including more common and "soft" neurologic conditions, such as headache, learning disorders, attention-deficit/hyperactivity disorder (ADHD), and tic disorders. The aim of the present study is to look for a broader spectrum of neurologic disorders in CD patients, most of them children or young adults.Methods. Patients with CD were asked to fill in a questionnaire regarding the presence of neurologic disorders or symptoms. Their medical charts were reviewed, and those who were reported as having neurologic manifestations underwent neurologic examination and brain imaging or electroencephalogram if required. Their neurologic data were compared with that of a control group matched for age and gender.Results. Patients with CD were more prone to develop neurologic disorders (51.4%) in comparison with control subjects (19.9%). These disorders include hypotonia, developmental delay, learning disorders and ADHD, headache, and cerebellar ataxia. Epileptic disorders were only marginally more common in CD. In contrast, no difference was found in the prevalence of tic disorders in both groups. Therapeutic benefit, with gluten-free diet, was demonstrated only in patients with transient infantile hypotonia and migraine headache.Conclusion. This study suggests that the variability of neurologic disorders that occur in CD is broader than previously reported and includes "softer" and more common neurologic disorders, such as chronic headache, developmental delay, hypotonia, and learning disorders or ADHD. Future longitudinal prospective studies might better define the full range of these neurologic disorders and their clinical response to a gluten-free diet. Pediatrics 2004;113:1672-1676; celiac disease, neurologic disorders, migraine, attention-deficit/hyperactivity disorder, hypotonia.ABBREVIATIONS. CD, celiac disease; ADHD, attention-deficit/ hyperactivity disorder.A lthough in the past celiac disease (CD) was primarily considered to be a gluten enteropathy, during the past 2 decades, its clinical concept has been expanded, and it is now considered a multisystem autoimmune disorder, 1 with most of the patients being asymptomatic, oligosymptomatic, or present with extraintestinal manifestations. 2 Among these extraintestinal manifestations, there is a growing body of publications that report neurologic conditions that are associated with CD. 3-12 Although earlier studies reported neurologic complications in patients with classical gluten enteropathy, some recent studies report neurologic disorders in asymptomatic CD patients. 13,14 Most of the patients who have CD and were reported ...

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Section: Discussionmentioning

confidence: 99%

Range of Neurologic Disorders in Patients With Celiac Disease

et al. 2004

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“…Vitamin E deficiency has been documented in patients with cystic fibrosis and multiple ileal resections. 58 Other causes include a familial disorder of vitamin E absorption 78 and abetalipoproteinemia (Bassen-Kornzweig syndrome), an autosomal recessive syndrome with absence of apoprotein B and consequently abnormal vitamin E absorption.…”

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confidence: 99%

Neuromuscular diseases and disorders of the alimentary system

2002

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This review outlines the relationship and interaction between neuromuscular diseases and disorders of the alimentary system. Neuromuscular manifestations of gastrointestinal and hepatobiliary diseases are first considered. Such diseases may cause neuromuscular disorders by leading to nutritional deficiency or by more direct mechanisms. The pathogenesis, clinical features, and treatment of these various neuromuscular manifestations are discussed. The impact of disorders of nerve, neuromuscular transmission, and muscle on the alimentary system is then reviewed. The main sequelae are impaired deglutition and gastrointestinal dysmotility. The management of these complications is considered.

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“…Otherwise, vitamin E deficiency is rare in humans and is limited to cases of fat malabsorption and protein energy malnutrition (12). Documented effects of vitamin E deficiency in humans include ataxic neuropathy, pigmentary retinopathy, spinocerebellar syndrome and, in rare cases, skeletal myopathy (13,14), and a number of vitamin E-dependent myopathies have also been documented in animals (15,16). The biochemical explanation for the relationship between vitamin E deficiency and the abovementioned diseases remains obscure, and may involve antioxidant and/or nonantioxidant effects of vitamin E.…”

Section: Introductionmentioning

confidence: 94%

Changes in the metabolic profile of rat liver after α‐tocopherol deficiency as revealed by metabolomics analysis

2010

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Metabolomics is an approach in which the profiles of metabolites in different tissues and/or biofluids are investigated to understand the changes induced following a modulation. We used this approach to investigate the biochemical effects of α-tocopherol in the liver using a rat model. Rats (21-day-old) were fed either an α-tocopherol-sufficient control (n = 10) or an α-tocopherol-deficient (n = 10) diet for 2 months before sacrifice. Livers were homogenized in methanol-chloroform-water (3 : 1 : 1, v/v/v), and the polar phase extracts of the liver samples were analyzed using (1) H NMR. Multivariate statistical analysis of the data was performed using principal component analysis and orthogonal partial least squares-discriminant analysis. Identification of (1) H NMR signals was performed primarily using the Human Metabolome Database, Biological Magnetic Resonance Data Bank and previous literature, and confirmed by spiking with metabolites and applying two-dimensional NMR. The statistical analysis revealed that α-tocopherol deficiency caused an increase in carnitine, choline, L-valine, L-lysine, tyrosine and inosine content and a reduction in glucose and uridine 5'-monophosphate content. Changes in carnitine and glucose suggest a possible shift in energy metabolism.

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Spinocerebellar degeneration secondary to chronic intestinal malabsorption: A vitamin E deficiency syndrome

Cited by 144 publications

References 28 publications

Range of Neurologic Disorders in Patients With Celiac Disease

Range of Neurologic Disorders in Patients With Celiac Disease

Neuromuscular diseases and disorders of the alimentary system

Changes in the metabolic profile of rat liver after α‐tocopherol deficiency as revealed by metabolomics analysis

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