This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (51)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

LUDWIG GUTMANN, M.D.; LUC LEMLI, M.D.

Arch Neurol. 1963;8(3):318-327.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

The syndrome of ataxia-telangiectasia was first described in 1941 by Madame Louis-Bar¹ and subsequently elaborated upon by Boder and Sedgwick^2,3 and Wells and Shy⁴ in 1957. Since that time approximately 50 cases have been reported in the literature. The most prominent findings of this syndrome are the onset, early in childhood, of progressive cerebellar ataxia, oculocutaneous telangiectasia, and severe recurrent sinopulmonary infections. Less striking elements of ataxia-telangiectasia include familial occurrence, choreoathetosis, hyporeflexia, drooling, dysarthric speech, retardation of statural growth, pseudo-ophthalmoplegia, and fixation nystagmus.⁵

In the present study, three siblings with this disorder are described. Frequent and severe infections, which complicated a majority of the cases in the literature, were a problem in the patients presented in this study. Hypogammaglobulinemia was found to be present in all three cases reported and very likely played an etiological role in the infectious processes of two, if not all . . . [Full Text PDF of this Article]

Author Affiliations
MADISON, WIS.

From the Departments of Neurology and Pediatrics, University of Wisconsin Hospitals.

Footnotes
Received for publication Oct. 31, 1962.

Resident, Department of Neurology (Dr. Gutmann); Resident, Department of Pediatrics (Dr. Lemli), University of Wisconsin Hospitals.

This work was supported, in part, by National Institutes of Health Training Grant No. 2B-5098 (C4).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?