Familial myoclonic dementia masquerading as Creutzfeldt-Jakob disease.
Publication/Presentation Date
8-1-1986
Abstract
We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesser involvement of the anterior, lateral, and posterior thalamic nuclei. Medullary olivary hypertrophy is prominent. Spongiform change is minimal or absent. Attempted disease transmission to primates from 3 affected family members has been unsuccessful; Western immunoblot tests have likewise failed to detect the presence of specifically reactive 27-30 kD Mr proteins in brain tissue from 2 of these patients. We conclude that this family has a rare inherited neurological systems degeneration with associated thalamic dementia, the clinical course of which is very similar to Creutzfeldt-Jakob disease.
Volume
20
Issue
2
First Page
231
Last Page
239
ISSN
0364-5134
Published In/Presented At
Little, B. W., Brown, P. W., Rodgers-Johnson, P., Perl, D. P., & Gajdusek, D. C. (1986). Familial myoclonic dementia masquerading as Creutzfeldt-Jakob disease. Annals of neurology, 20(2), 231–239. https://doi.org/10.1002/ana.410200209
Disciplines
Medicine and Health Sciences
PubMedID
3530120
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article