Progressive dystonia masking ataxia in ataxia-telangiectasia

J. B. Bodensteiner, R. M. Goldblum, A. S. Goldman

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologic abnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia.

Original languageEnglish (US)
Pages (from-to)464-465
Number of pages2
JournalArchives of Neurology
Volume37
Issue number7
StatePublished - 1980

Fingerprint

Ataxia Telangiectasia
Dystonia
Ataxia
Basal Ganglia
Telangiectasis
Neurologic Manifestations
Nervous System Diseases
Siblings
Autopsy
Masking
Manifestation
Boys
Sister
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bodensteiner, J. B., Goldblum, R. M., & Goldman, A. S. (1980). Progressive dystonia masking ataxia in ataxia-telangiectasia. Archives of Neurology, 37(7), 464-465.

Progressive dystonia masking ataxia in ataxia-telangiectasia. / Bodensteiner, J. B.; Goldblum, R. M.; Goldman, A. S.

In: Archives of Neurology, Vol. 37, No. 7, 1980, p. 464-465.

Research output: Contribution to journalArticle

Bodensteiner, JB, Goldblum, RM & Goldman, AS 1980, 'Progressive dystonia masking ataxia in ataxia-telangiectasia', Archives of Neurology, vol. 37, no. 7, pp. 464-465.
Bodensteiner JB, Goldblum RM, Goldman AS. Progressive dystonia masking ataxia in ataxia-telangiectasia. Archives of Neurology. 1980;37(7):464-465.
Bodensteiner, J. B. ; Goldblum, R. M. ; Goldman, A. S. / Progressive dystonia masking ataxia in ataxia-telangiectasia. In: Archives of Neurology. 1980 ; Vol. 37, No. 7. pp. 464-465.
@article{512c7e5ab8c34295b9aae36d1a84686c,
title = "Progressive dystonia masking ataxia in ataxia-telangiectasia",
abstract = "A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologic abnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia.",
author = "Bodensteiner, {J. B.} and Goldblum, {R. M.} and Goldman, {A. S.}",
year = "1980",
language = "English (US)",
volume = "37",
pages = "464--465",
journal = "Archives of Neurology",
issn = "0003-9942",
publisher = "American Medical Association",
number = "7",

}

TY - JOUR

T1 - Progressive dystonia masking ataxia in ataxia-telangiectasia

AU - Bodensteiner, J. B.

AU - Goldblum, R. M.

AU - Goldman, A. S.

PY - 1980

Y1 - 1980

N2 - A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologic abnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia.

AB - A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologic abnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia.

UR - http://www.scopus.com/inward/record.url?scp=0018854634&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018854634&partnerID=8YFLogxK

M3 - Article

VL - 37

SP - 464

EP - 465

JO - Archives of Neurology

JF - Archives of Neurology

SN - 0003-9942

IS - 7

ER -