This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. Because of the variety of clinical manifestations, antemortem diagnosis of NIID is difficult.
Methods: Seven skin biopsy samples from patients with familial NIID were evaluated histochemically, and the results were compared with those of skin samples from normal control subjects and from patients with other neurologic diseases. We also examined skin biopsy samples from patients with NIID by electron microscopy.
Results: In NIID skin biopsy samples, intranuclear inclusions were observed in adipocytes, fibroblasts, and sweat gland cells. These inclusions were stained with both anti-ubiquitin and anti-SUMO1 antibodies. Electron microscopy revealed that the features of the intranuclear inclusions in adipocytes, fibroblasts, and sweat gland cells were identical to those of neuronal cells. Approximately 10% of adipocytes showed intranuclear inclusions. No intranuclear inclusions were identified in the skin samples from normal control subjects and patients with other neurologic diseases.
Conclusions: Skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID.
Footnotes
Study funding: Supported by a 21st Century Center of Excellence (COE) grant and a global COE grant from the Ministry of Education, Culture, Sports, Science and Technology of Japan and by a grant from the Ministry of Health, Welfare and Labor of Japan.
-
Editorial, page 1368
-
- ALS=
- amyotrophic lateral sclerosis;
- CMT=
- Charcot-Marie-Tooth;
- DAPI=
- 4′,6-diamidino-2-phenyindole di-lactate;
- DRPLA=
- dentatorubral pallidoluysian atrophy;
- FAP=
- familial amyloid polyneuropathy;
- HD=
- Huntington disease;
- H&E=
- hematoxylin & eosin;
- MSA=
- multiple system atrophy;
- NIID=
- neuronal intranuclear inclusion disease;
- PD=
- Parkinson disease;
- PSP=
- progressive supranuclear palsy;
- SBMA=
- spinal and bulbar muscular atrophy;
- SCA3=
- spinocerebellar ataxia 3.
- Received August 6, 2010.
- Accepted November 17, 2010.
- Copyright © 2011 by AAN Enterprises, Inc.
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Hemiplegic Migraine Associated With PRRT2 Variations A Clinical and Genetic Study
Dr. Robert Shapiro and Dr. Amynah Pradhan