Friedreich’s Ataxia With Nephrotic Syndrome and Convulsive Disorder: Clinical and Neurophysiological Studies With Renal and Nerve Biopsies and An Autopsy

5Citations
Citations of this article
8Readers
Mendeley users who have this article in their library.

Abstract

In a sibship of four, Friedreich’s ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich’s ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition. The chance of Friedreich’s ataxia and minimal lesion nephrotic syndrome occurring in two siblings is small, and suggested a common immunological abnormality. High dose prednisone and antimetabolites given for the nephrotic syndrome did not appear to affect the course of Friedreich’s ataxia. The two siblings with Friedreich’s ataxia and nephrotic syndrome developed epilepsy at age 15 years. All three children with Friedreich’s ataxia had abnormal electroencephalograms (EEGs). These epileptiform EEG abnormalities were probably inherited from the mother, who had spike wave epilepsy. The neurologic deficits of Friedreich’s ataxia, in turn, may have allowed the EEG trait to be expressed as a seizure disorder. The progressive ataxia and epileptic, sometimes myoclonic, seizures in these patients and the dentate nucleus changes in the autopsied patient were consistent with the diagnosis of dyssynergia cerebellaris myoclonica. This suggested that the latter disorder may represent a coincidence of two genetic entities: Friedreich’s ataxia and spike wave epilepsy. © 1981, Canadian Neurological Sciences Federation. All rights reserved.

Cite

CITATION STYLE

APA

Watters, G. V., Zlotkin, S. H., Kaplan, B. S., Humphreys, P., & Drummond, K. N. (1981). Friedreich’s Ataxia With Nephrotic Syndrome and Convulsive Disorder: Clinical and Neurophysiological Studies With Renal and Nerve Biopsies and An Autopsy. Canadian Journal of Neurological Sciences/Journal Canadien Des Sciences Neurologiques, 8(1), 55–60. https://doi.org/10.1017/S0317167100042852

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free