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Familial myoclonic dementia masquerading as Creutzfeldt‐Jakob disease
Author(s) -
Little Brian W.,
Brown Paul W.,
RodgersJohnson Pamela,
Perl Daniel P.,
Gajdusek D. Carleton
Publication year - 1986
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410200209
Subject(s) - myoclonus , dementia , gliosis , neuropathology , pathology , neuroscience , medicine , degenerative disease , creutzfeldt jakob syndrome , pathological , disease , anticipation (artificial intelligence) , atrophy , biology , prion protein , artificial intelligence , computer science
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.