Adelaide Research & Scholarship
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https://hdl.handle.net/2440/5756
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| 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 |
| Publisher: | Elsevier BV |
| Issue Date: | 1998 |
| ISSN: | 0022-510X 1878-5883 |
| Statement of Responsibility: | 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 |
| DOI: | 10.1016/S0022-510X(98)00169-5 |
| Published version: | http://dx.doi.org/10.1016/s0022-510x(98)00169-5 |
| Appears in Collections: | Aurora harvest Pathology publications |
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