0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Correspondence |

Spinocerebellar Ataxia Types 2 and 10: More Than a Coincidental Association?

Jose Fidel Baizabal-Carvallo, MD, MSc; Joseph Jankovic, MD
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2281.
Text Size: A A A
Published online

Extract

We read with great interest the article by Kapur and Goldman1 of a 54-year-old man with mutations for spinocerebellar ataxia types 2 (SCA2 ; 38/22 CAG repeats) and 10 (SCA10 ; 962/10 ATTCT repeats), with overlapping clinical features of the 2 forms of autosomal dominant ataxias. The subject was Mexican and Native American, with French ancestry.

We have been following up a 39-year-old Bolivian man with a 13-year history of slowly progressive gait imbalance and lower limb ataxia. The patient has a history of multiple generalized tonic-clonic and partial complex seizures from ages 10 to 13 years that responded to treatment with carbamazepine. No cause was found for these seizures. The patient also reported a history of motor and phonic tics since the age of 7 years that were still present at his presentation. The neurologic examination showed markedly slow ocular saccades, dysarthria, upper and lower limb dysmetria, dysdiadochokinesis, and wide-based ataxic gait. There was no evidence of nystagmus, retinal changes, parkinsonism, Romberg sign, altered reflexes, or peripheral neuropathy ().

Figures in this Article

Topics

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview

Figures

Place holder to copy figure label and caption
Graphic Jump Location

Figure. Pedigree of Bolivian family with spinocerebellar ataxia types 2 and 10. Arrow indicates the proband, case III.2. Other affected individuals included case I.2 who died and cases II.2 and II.3 (shaded squares and circles), who had progressive cerebellar ataxia but no seizures. Case II.3 also experienced tics. Case III.4 was possibly affected.

Tables

References

Correspondence

November 1, 2012
Sachin S. Kapur, MD, MS; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2771.
CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

Customize your page view by dragging & repositioning the boxes below.

Related Multimedia
Jobs
brightcove.createExperiences();