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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.
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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.
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