Adult dementia due to intraneuronal accumulation of ceroidlipofuscinosis (Kufs' disease): ultrastructural study of two cases.
Two cases, a man and a woman, presented the initial signs of progressive dementia at about age 40 years. Aphasia, facial dyskinesias, and ataxia were associated with behavioral disturbances in the first patient. Aphasia, oculomotor disturbances, and ataxia coexisted with dementia in the second patient. In both cases, ultrastructural examination of a cerebral biopsy showed intraneuronal granular osmiophilic deposits mixed with lamellar structures and fingerprint profiles. Such deposits are characteristic of Kufs' disease. In the first patient, brain autopsy was performed 3 years after cerebral biopsy. Our two cases presenting dementia with motor disturbances correspond to type B Kufs' disease.
Vital
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A
Départment de Neuropathologie, Université Bordeaux II, Centre Hospitalier de Sarlat, France.
Vital
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C
Orgogozo
J M
JM
Mazeaux
J M
JM
Pautrizel
B
B
Larivière
J M
JM
D000328:Adult; D002540:Cerebral Cortex / Q000473:pathology / Q000648:ultrastructure; D003704:Dementia / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000473:pathology; D009474:Neurons / Q000648:ultrastructure