Friedreich's Disease
نویسنده
چکیده
Off(j. Civil Surgeon, Backer gunge. At a meeting 0f the Calcutta Medical Society held on the 11th of June, Dr. Cobb read a paper on Friedreich's Disease, or Hereditary Ataxia, which was reported in the Indian Medical Gazette for July. The patient, as is usual in such cases, was a child. The prominent symptoms present were considerable inco-ordination of the lower limbs; slight losa of sensation and skin reflex in one foot; and exaggerated knee-jerk and slight ankle-clonus on both sides. Further, there were no rigidities. In the great majority of instances of this disease, there is an affection of the speech pre-
منابع مشابه
Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملLate onset recessive ataxia with Friedreich's disease phenotype.
The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late on...
متن کاملAtypical Friedreich's Ataxia
Under the general diagnostic heading of "Friedreich's disease" or "Friedreich's ataxia" have been included many cases which differed in one or several respects from the classical dinico-pathological syndrome. As pointed out by Wilson3 these variant types serve to demonstrate a relationship between this and other heredofamilial degenerative neurological disorders. The four case reports which fol...
متن کاملLate onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities. The peripheral and central neurophysiological findings, sural nerve biopsy, and the neuroradiological picture did not allow...
متن کاملStudies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia.
Skin fibroblasts from seven patients with Friedreich's ataxia showed a small but significant increase in sensitivity to ionising radiation, as measured by post-irradiation clonal growth, when compared with cells from ten age-matched control subjects and from eight patients with motor neuron disease. Fibroblasts from three patients with Friedreich's ataxia also showed impairment of their ability...
متن کاملPlatelet taurine content in Friedreich's disease.
We have studied the concentrations of taurine and of 6 other amino acids in platelets from 12 patients with Friedreich's disease and 12 age sex-matched normal control subjects. No significant differences could be demonstrated between the two groups. The glycine/serine ratio was lower in all the patients but this change did not reach statistical significance. From these and other data, we conclu...
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عنوان ژورنال:
دوره 25 شماره
صفحات -
تاریخ انتشار 2016