Friedreich’s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Acta Neuropathologica

• Publication date

  1997-06-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/s004010050662PMID 9194904
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Endothelial lipopigment as an indicator of α-tocopherol deficiency in two equine neurodegenerative diseases

  2004cited by this paper
• Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

  1995cited by this paper
• Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.

  1995cited by this paper
• Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

  1995cited by this paper
• Concomitant brainstem axonal dystrophy and necrotizing myopathy in vitamin E-deficient rats.

  1994influential reference
• Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

  1993cited by this paper
• Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

  1993cited by this paper
• Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

  1992cited by this paper
• Experimental vitamin E deficiency in rats. Morphological and functional evidence of abnormal axonal transport secondary to free radical damage.

  1991cited by this paper
• Vitamin E remains the major lipid-soluble, chain-breaking antioxidant in human plasma even in individuals suffering severe vitamin E deficiency.

  1987cited by this paper
• Ultrastructural and histochemical abnormalities of skeletal muscle in patients with chronic vitamin E deficiency

  1983cited by this paper
• Neuromyopathy and vitamin E deficiency in man.

  1981cited by this paper
• A progressive neurologic syndrome in children with chronic liver disease.

  1981cited by this paper
• Progressive Neuropathologic Lesions in Vitamin E-Deficient Rhesus Monkeys

  1981cited by this paper
• Familial Lipoprotein Deficiency

  1978cited by this paper
• PROGRESSIVE NEUROPATHOLOGIC LESIONS WITH VITAMIN E DEFICIENCY IN MAMMALS INCLUDING MAN

  1978cited by this paper
• Abetalipoproteinemia (Bassen-Kornzweig syndrome)

  1977cited by this paper
• Pathophysiology of vitamin E deficiency in monkeys.

  1974cited by this paper
• The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings.

  1970cited by this paper
• Electron microscopic studies on the lipo-pigments in the cerebral cortex nerve cells of senile and vitamin E deficient rats

  1967cited by this paper
• THE EFFECT OF CHRONIC VITAMIN E DEFICIENCY ON THE NERVOUS SYSTEM IN THE RAT.

  1949cited by this paper
• VITAMIN E DEFICIENCY, DIETARY FAT, AND SPINAL CORD LESIONS IN THE RAT

  1949cited by this paper

• A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog

  2025cites this paper
• Human Vitamin E deficiency, and what is and is not Vitamin E?

  2024cites this paper
• Alpha-Tocopherol from People to Plants Is an Essential Cog in the Metabolic Machinery

  2023cites this paper
• [Physiological Function and Congenital Deficiency of α-TTP, a Determinant of Vitamin E Transport in the Body -One Portion of the Research for Which the Pharmaceutical Society of Japan Award Was Given].

  2022cites this paper
• The tocopherol transfer protein mediates vitamin E trafficking between cerebellar astrocytes and neurons

  2022cites this paper
• Recessive cerebellar and afferent ataxias — clinical challenges and future directions

  2022cites this paper
• Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance

  2021cites this paper
• α-Tocopherol transfer protein (α-TTP).

  2021cites this paper
• Sensory neuronopathies: new genes, new antibodies and new concepts

  2021cites this paper
• Movement Disorders and Inherited Metabolic Disorders

  2020cites this paper
• Neurometabolic and neurodegenerative diseases in children.

  2017cites this paper
• The Combined Effect of Wheat Germ Oil and Carbamazepine on the Improvement of Learning and Spatial Memory of Epileptic Mice

  2017cites this paper
• Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

  2016cites this paper
• More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

  2016cites this paper
• A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia

  2016cites this paper
• Vitamin E and neurodegeneration.

  2015influential citation
• RATIONALIZING NANOEMULSION FORMATION FOR ENCAPSULATION, PROTECTION AND DELIVERY OF BIOACTIVE FOOD COMPONENTS

  2015cites this paper
• Human NCL Neuropathology.

  2015cites this paper
• Intracellular Transport of Fat‐Soluble Vitamins A and E

  2015cites this paper
• The Progression of Cardiomyopathy in the Mitochondrial Disease, Friedreich’s Ataxia

  2014cites this paper
• Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

  2014influential citation
• Corpora Amylacea in Aging Brain and Age-Related Brain Disorders 

  2014cites this paper
• Mitochondria: The Anti- cancer Target for the Third Millennium

  2014cites this paper
• Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.

  2013cites this paper
• Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.

  2013cites this paper
• Antiepileptic Effect of Vitamin E on Kainic Acid-induced Temporal Lobe Epilepsy in Rats

  2012cites this paper
• A comparative review of vitamin E and associated equine disorders.

  2012cites this paper
• Ataxia with vitamin E deficiency and abetalipoproteinemia.

  2012cites this paper
• Regulation of vitamin E and the tocopherol transfer protein

  2012cites this paper
• Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.

  2011cites this paper
• Altered vitamin E status in Niemann-Pick type C disease

  2011cites this paper
• NOVEL SYNCHROTRON-BASED ANALYSES OF METAL PATHOLOGY IN FRIEDREICH'S ATAXIA

  2009cites this paper
• Synchrotron X-ray Fluorescence Reveals Abnormal Metal Distributions in Brain and Spinal Cord in Spinocerebellar Ataxia: A Case Report

  2009cites this paper
• Multicellular models of Friedreich ataxia

  2009cites this paper
• Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy.

  2007cites this paper
• Apolipoprotein E exerts selective and differential control over vitamin E concentrations in different areas of mammalian brain

  2006cites this paper
• CHAPTER 20 – Mouse Models for Friedreich's Ataxia

  2006cites this paper
• Neurodegenerative Diseases: Friedreich's ataxia and other autosomal recessive ataxias

  2005cites this paper
• Iron uncouples oxidative phosphorylation in brain mitochondria isolated from vitamin E-deficient rats.

  2004cites this paper
• Role of heme oxygenase-1 in the biogenesis of corpora amylacea

  2004cites this paper
• Oxidative stress in autism.

  2004cites this paper
• Current State of Clinical and Morphological Features in Human NCL

  2004cites this paper
• Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

  2004cites this paper
• Effect of Vitamin E on Glutathione-Dependent Enzymes

  2003cites this paper
• Familial Ataxia with Isolated Vitamin E Deficiency (AVED)

  2003cites this paper
• Rare forms of autosomal recessive neurodegenerative ataxia.

  2003cites this paper
• Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

  2001cites this paper
• [Vitamin E deficiency. Etiopathogenesis, clinical, histopathologic, and electrical features, and main etiologies].

  2001cites this paper
• Delayed-onset ataxia in mice lacking α-tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress

  2001cites this paper
• Postmortem study of ataxia with retinitis pigmentosa by mutation of the α-tocopherol transfer protein gene

  2000cites this paper
• Progress in neuropathology of the neuronal ceroid lipofuscinoses.

  1999cites this paper
• Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders

  1999cites this paper
• Vitamin E: function and metabolism

  1999cites this paper
• Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

  1999cites this paper
• Electrophysiological and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency

  1998cites this paper
• A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects.

  1998cites this paper
• Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency.

  1998cites this paper
• Localization of alpha-tocopherol transfer protein in rat brain.

  1998cites this paper
• The Hereditary Ataxias

  1998cites this paper
• Localization of α-tocopherol transfer protein in rat brain

  1998cites this paper