Serum vitamin E concentrations are normal in Friedreich's ataxia.
نویسندگان
چکیده
Serum vitamin E concentrations and vitamin E:cholesterol ratios in 31 patients with Friedreich's ataxia were not significantly different from values obtained from either disabled or ambulant control subjects. Although the clinical features of Friedreich's ataxia are similar to those associated with severe vitamin E deficiency, there are subtle but important clinical and neurophysiological differences between the two disorders.
منابع مشابه
Progressive ataxia due to alpha-tocopherol deficiency in Pakistan
Ataxia is a common neurological symptom defined as the loss of ability to control and coordinate bodily movements. It has multiple etiologies, among which vitamin E deficiency is a treatable and relatively reversible cause. Early diagnosis of vitamin E deficiency and vitamin E replacement can alleviate the symptoms, and halt the disease progression and even reverse ataxia associated with it. At...
متن کاملA Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neurological features can be prevented. Patients can present with a progressive cerebellar ataxia, pyramidal spasticit...
متن کاملFriedreich's ataxia and oral glucose tolerance: I. The effect of ingested glucose on serum glucose and insulin values in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene.
Glucose tolerance and insulin release were evaluated in 16 families with Friedrich's ataxia. Impaired glucose tolerance differed in incidence according to the method of evaluation, but was increased in number in parents and siblings of Friedreich's cases. Insulin output was not quantitatively different from normal, although the insulin peak was often delayed. This finding, in association with i...
متن کاملFriedreich's ataxia: clinical and molecular study of 25 Brazilian cases.
INTRODUCTION Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS We studied the frequency and the size of expanded GAA and their influence on neurolog...
متن کاملNicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich's ataxia cardiomyopathy model.
Increasing NAD+ levels by supplementing with the precursor nicotinamide mononucleotide (NMN) improves cardiac function in multiple mouse models of disease. While NMN influences several aspects of mitochondrial metabolism, the molecular mechanisms by which increased NAD+ enhances cardiac function are poorly understood. A putative mechanism of NAD+ therapeutic action exists via activation of the ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 50 5 شماره
صفحات -
تاریخ انتشار 1987