Electrophysiological and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency

Zouari, M.; Feki, Moncef; Hamida, Christiane Ben; Larnaout, A.; Turki, Ilhem; Belal, Samir; Mebazaa, Abderraouf; Hamida, M. Ben; Hentati, Fayçal

doi:10.1016/s0960-8966(98)00051-0

Cited by 60 publications

(34 citation statements)

References 51 publications

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“…Nerve conduction studies were performed on 45 patients (25 families), and the superficial peroneal nerve were biopsied in 13 unrelated patients as described by Zouari et al (1997). A fragment of the peroneus brevis muscle was also extracted in parallel to the nerve biopsy and in addition to undergoing the routine histoenzymatic analyses, sections were stained with haematoxylin and eosin.…”

Section: Nerve Conduction Studies and Nerve And Muscle Biopsiesmentioning

confidence: 99%

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: Nerve Conduction Studies and Nerve And Muscle Biopsiesmentioning

confidence: 99%

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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“…7 Visual evoked potentials were measured by monocular stimulation with an alternating black-and-white checkerboard pattern. The amplitude and the latency of the P100 wave were recorded.…”

Section: Laboratory Investigationsmentioning

confidence: 99%

Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

et al. 2003

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“…This has been attributed to a defective interaction between the axons and Schwann cells leading to a gradual loss of myelinated fibers in the distal nerves. These findings indicate that such histopathological changes occurring in the peripheral nerves are peculiar to FRDA patients and may lead to a reduction in amplitude or to the absence of sensory evoked potentials, as well as to a moderate decrease in conduction velocity in some patients [20] . Indeed, there were no sensory evoked potentials in the sural or median nerves of the FRDA patient reported in this study.…”

Section: Discussionmentioning

confidence: 69%

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

et al. 2015

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Electrophysiological and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency

Cited by 60 publications

References 51 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

Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

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