You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 56 No. 5, May 1999 TABLE OF CONTENTS
  Archives
  •  Online Features
  Images in Neurology
 This Article
 •Full text
 •PDF
 • Reply to article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citing articles on ISI (1)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Neurology, Other
 •Alert me on articles by topic

Spinocerebellar Ataxia Type 2

Arch Neurol. 1999;56:628.

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

A 37-YEAR-OLD woman presented with a 6-month history of progressive gait difficulty and dysarthria. She stated that her only child, a 13-year-old daughter, was "clumsy," but she was unaware of other family members with the same problem. Examination was noteworthy for mild dysarthria, slowing of saccades and gaze-holding difficulty, diffuse hyporeflexia, mild dysmetria and dysdiadochokinesis, and gait ataxia. The patient's daughter had similar findings but was areflexic. A head computed tomographic scan (Figure 1 ) showed impressive pontocerebellar atrophy, also readily evident on magnetic resonance imaging (Figure 2). Serologic testing revealed that the CAG repeat lengths of the alleles for the ataxin-2 gene were 41/22 in the patient, 51/22 in her daughter, and 22/22 (homozygous) in the patient's unaffected mother (normal repeat length, 14-31). This expanded polyglutamine tract was diagnostic for spinocerebellar ataxia type 2.


 
Figure appears in full text version.
Figure 1. Head computed tomographic scan demonstrates severe atrophy of the pons . . . [Full Text of this Article]


COMMENT







HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 1999 American Medical Association. All Rights Reserved.