Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia

Martinello, Flávia; Fardin, P; Ottina, M.; Ricchieri, G L; Kœnig, M.; Cavalier, L; Trevisan, Caterina

doi:10.1016/s0022-510x(98)00038-0

Cited by 55 publications

(19 citation statements)

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“…Cardiac involvement was also rare, occurring only in Moroccan and Tunisian patients. Several other symptoms, such as dystonia (Yokota et al, 1987;Cavalier et al, 1998;Schuelke et al, 2000;Angelini et al, 2002), myoclonus (Yokota et al, 1987;Angelini et al, 2002), tongue fasciculations (Martinello et al, 1998;Roubertie et al, 2003) and deafness (Shimohata et al, 1998;Usuki et al, 2000), are considered to be rare findings in patients with AVED and were not observed in our patients. Wheelchair-bound age reported for some of our patients was variable, as reported by Cavalier et al (1998), andMariotti et al (2004) despite vitamin E treatment.…”

Section: Clinical Featuresmentioning

confidence: 63%

“…However, the frameshift 744delA mutation was clearly the most frequent TTPA mutation, detected in 73 families of the 106 reported worldwide to date, including 48 Tunisian families, of which five had already been reported (Ouahchi et al, 1995;Larnaout et al, 1997;Cavalier et al, 1998;Bouhlal et al, 2008). The same mutation was also described in 23 other Mediterranean families: 11 Moroccan (Ouahchi et al, 1995;Cavalier et al, 1998;Benomar et al, 2002;Roubertie et al, 2003;Marzouki et al, 2005), nine Italian (Ouahchi et al, 1995;Cavalier et al, 1998;Martinello et al, 1998;Angelini et al, 2002;Mariotti et al, 2004), one Algerian , one French (Ouahchi et al, 1995), and two Spanish (May Cabrero et al, 2000;Aparicio et al, 2001).…”

Section: Discussion Genetic Characteristics and Epidemiologic Datamentioning

confidence: 86%

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Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Euch-Fayache

Bouhlal

Amouri

et al. 2013

Brain

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Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the a-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA was the most common mutation among the 22 mutants previously described. We examined the clinical and molecular features of a large cohort of 132 Tunisian patients affected with ataxia with vitamin E deficiency. Of these patients, nerve conduction studies were performed on 45, and nerve biopsy was performed on 13. Serum vitamin E was dramatically reduced for 105 of the patients analysed. Molecular analysis revealed that 91.7% of the patients (n = 121) were homozygous for the 744delA mutation. Three other mutations were detected among the remaining patients (8.3%, n = 11) in the homozygous state. Two were previously reported (400C4T and 205-1G4T), and one was novel (553 + 1T4A). Age of onset was 13.2 AE 5.9 years, with extremes of 2 and 37 years. All described patients exhibited persistent progressive cerebellar ataxia with generally absent tendon reflexes. Deep sensory disturbances, pyramidal syndrome and skeletal deformities were frequent. Head tremor was present in 40% of the patients. Absence of neuropathy or mild peripheral neuropathy was noted in more than half of the cohort. This is the largest study of the genetic, clinical and peripheral neuropathic characteristics in patients with ataxia and vitamin E deficiency. The 744delA mutation represents the most common pathological mutation in Tunisia and worldwide, likely because of a Mediterranean founder effect. Our study led us to suggest that any patient displaying an autosomal recessive cerebellar ataxia phenotype with absent tendon reflexes and minor nerve abnormalities should first be screened for the 744delA mutation, even in the absence of a serum vitamin E measurement.

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Section: Clinical Featuresmentioning

confidence: 63%

Section: Discussion Genetic Characteristics and Epidemiologic Datamentioning

confidence: 86%

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Euch-Fayache

Bouhlal

Amouri

et al. 2013

Brain

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“…Further study is necessary to elucidate this mechanism. Neurological symptoms that result from vitamin E deficiency include cerebellar ataxia, peripheral neuropathy, and myopathy [11][12][13][14][15][16][17][18][19][20]. Vitamin E plays a role in the stabilization of cell membranes due to its antioxidant activities [21].…”

Section: Discussionmentioning

confidence: 99%

Correlation between neurological dysfunction with vitamin E deficiency and gastrectomy

Ueda

Suzuki

Rino

et al. 2009

Journal of the Neurological Sciences

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“…En cas d'effondrement du taux de Vitamine E avec lipidogramme normal, le diagnostic est confirmé par l'étude du gène de la protéine de transport de l'alpha-tocophérol (aTTP) [12]. Le traitement repose sur l'administration à vie de fortes doses de vitamine E (1 000 à 2 000 mg/j) [13].…”

Section: Mécanisme Métaboliqueunclassified

Ataxies cérébelleuses autosomiques recessives

Tranchant

Anheim

2009

La Presse Médicale

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Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia

Cited by 55 publications

References 10 publications

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Correlation between neurological dysfunction with vitamin E deficiency and gastrectomy

Ataxies cérébelleuses autosomiques recessives

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