Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
Type: Journal article
Title: Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions
Author: Kimber, T.
Blumbergs, P.
Rice, J.
Hallpike, J.
Edis, R.
Thompson, P.
Suthers, G.
Citation: Journal of the Neurological Sciences, 1998; 160(1):33-40
Issue Date: 1998
ISSN: 0022-510X
Statement of
Kimber, T.E; Blumbergs, P.C; Rice, J.P; Hallpike, J.F; Edis, R; Thompson, P.D; Suthers, G
Abstract: Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness. This family provides strong evidence of an hereditary form of NIID.
Keywords: Inclusion Bodies; Humans; Neurodegenerative Diseases; Diseases in Twins; Nerve Tissue Proteins; Ubiquitins; Fatal Outcome; Pedigree; Twins, Monozygotic; Genes, Dominant; Adult; Female
RMID: 0030006148
DOI: 10.1016/S0022-510X(98)00169-5
Appears in Collections:Pathology publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.