Abetalipoproteinaemia in adults: Role of vitamin therapy

MacGilchrist, AJ; Mills, Peter R.; Noble, Mark J.; Foulds, W.S.; Simpson, J. A.; Watkinson, G.

doi:10.1007/bf01799870

Cited by 13 publications

(7 citation statements)

References 11 publications

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“…AnnualReviews.org, Electronic Materials). Although the clinical course is variable without treatment, it leads progressively to impaired mobility, and some patients require a wheelchair, or they become effectively bedridden (32,36,64,100,135,177,195,203,212). Although the clinical course is variable without treatment, it leads progressively to impaired mobility, and some patients require a wheelchair, or they become effectively bedridden (32,36,64,100,135,177,195,203,212).…”

Section: Neurological Signsmentioning

confidence: 99%

“…In ABL patients, there is a decrease in the plasma level of linoleic acid (18:2) (63, 106, 110, 169), which is accompanied by a decrease in linoleic acid levels in erythrocytes and platelets (12,90,110,201), and in the adipose, hepatic, and intestinal tissues (100,135,201). In contrast, the plasma levels of arachidonic acid (20:4) have been found to be normal (110) or decreased (87,100).…”

Section: Deficiency In Essential Fatty Acidsmentioning

confidence: 99%

“…Nevertheless, the levels in adipose tissue (41,82,111,194), hepatic tissue (22), and erythrocytes (41, 110) may increase and even normalize under massive doses of vitamin E administered by oral and/or parenteral routes. Furthermore, the autohemolysis (112,176) and the peroxidative hemolysis (49,135,143) in ABL may be corrected, in vitro as well as in vivo, by the addition of vitamin E. The bioavailability for the central nervous system and the retina remain to be shown.…”

Section: Deficiency In Lipid-soluble Vitaminsmentioning

confidence: 99%

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The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

et al. 2000

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The microsomal triglyceride transfer protein (MTP) is a dimeric lipid transfer protein consisting of protein disulfide isomerase and a unique 97-kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between membranes. It was recently demonstrated that abetalipoproteinemia, a hereditary disease characterized as an inability to produce chylomicrons and very low-density lipoproteins in the intestine and liver, respectively, results from mutations in the gene encoding the 97-kDa subunit of the microsomal triglyceride transfer protein. Downstream effects resulting from this defect include malnutrition, very low plasma cholesterol and triglyceride levels, altered lipid and protein compositions of membranes and lipoprotein particles, and vitamin deficiencies. Unless treated, abetalipoproteinemic subjects develop gastrointestinal, neurological, ophthalmological, and hematological abnormalities.

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Section: Neurological Signsmentioning

confidence: 99%

Section: Deficiency In Essential Fatty Acidsmentioning

confidence: 99%

Section: Deficiency In Lipid-soluble Vitaminsmentioning

confidence: 99%

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The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

et al. 2000

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“…Examples of this include decompression of a space-occupying lesion or Arnold-Chiari malformation and dietary interventions for pyruvate dysmetabolism (via a ketogenic diet [3, Class IIIa1]); a phytol-restricted diet for Refsum's disease [4, Class IIIa1]; very-long-chain fatty acid restriction and Lorenzo's oil for adrenoleukodystrophy [5, Class IIIa1]; chenodeoxycholic acid supplementation or cholesterol-lowering statin drugs for cerebrotendinous xanthomatosis [6, Class IIIa1]; and vitamin supp l e m e n t a t i o n f o r a b e t a l i p o p r o t e i n e m i a , hypobetalipoproteinemia, or other syndromes of low vitamin E intake [7,8,Class IIIb]. Case reports [9•, Class IIIb] in paraneoplastic cerebellar syndromes show that a small minority of patients improve after successful tumor treatment or immunosuppressive therapy (eg, chemotherapy, intravenous immunoglobulin, or plasmapheresis).…”

Section: Introductionmentioning

confidence: 99%

Cerebellar ataxia

Perlman

2000

Curr Treat Options Neurol

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There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.

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“…In this article, symptomatic treatments are emphasized. Antioxidants and metabolic stimulators remain unproven as disease-modifying treatments, and are discussed separately.& Vitamin E replacement is indicated in ataxia associated with vitamin E deficiency and abetalipoproteinemia [7]. & There are numerous additional metabolic syndromes, not outlined here, that may have ataxia as a manifestation and may respond to…”

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confidence: 98%

Therapeutic Interventions in the Primary Hereditary Ataxias

Revuelta

Wilmot

2010

Curr Treat Options Neurol

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The treatment of hereditary ataxia is primarily supportive. With very few exceptions (eg, ataxia associated with vitamin E deficiency), there are no disease-modifying therapies. Despite the lack of disease-modifying treatments, there can be great value in obtaining an accurate diagnosis of hereditary ataxia subtype. Benefits include determining prognosis, facilitating family counseling, improving research access, and providing some psychological benefit in ending the often frustrating search for an accurate etiology. Hereditary ataxias may have certain clinical features that respond very well to symptomatic medical therapy. Parkinsonism, dystonia, spasticity, urinary urgency, sleep pathology, fatigue, and depression are all common in many of the ataxia subtypes and very often respond to pharmacologic intervention as in other diseases. Much of the clinical interaction between neurologist and ataxia patient should focus on identifying and treating these symptoms. Treatment of the core clinical feature of these diseases-ataxia-is predominantly rehabilitative. The value of good physical therapy far exceeds any potential benefit from medications that a physician might prescribe to improve balance and coordination. Speech and swallowing are often affected. In more severe cases, aspiration risk can be very significant and life-threatening. Routine monitoring of swallowing by speech therapists, often including modified barium swallowing tests, is indicated in most patients. Recently there have been very encouraging advances in clinical ataxia research. Collaborative study groups throughout the world have developed and validated ataxia rating scales and instrumented outcome measures and have begun to rigorously define the natural history of these diseases, thus laying the foundation for well-designed clinical trials. The promise of disease-modifying treatments is closer than ever.

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Abetalipoproteinaemia in adults: Role of vitamin therapy

Cited by 13 publications

References 11 publications

The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

Cerebellar ataxia

Therapeutic Interventions in the Primary Hereditary Ataxias

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