| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
46-75 |
DRI_Background |
denotes |
Kufs' disease (adult neuronal |
| T2 |
97-205 |
DRI_Background |
denotes |
) is a rare form of neurodegenerative lysosomal storage disease, the genetic basis of which remains obscure. |
| T3 |
206-428 |
DRI_Challenge |
denotes |
We present a case of a 53-year-old man with a long history of adult onset epilepsy who presented with confusion and amnesia, and subsequently underwent rapidly progressive cognitive decline associated with myoclonic jerks. |
| T4 |
429-482 |
DRI_Background |
denotes |
The clinical diagnosis was Creutzfeldt Jakob disease. |
| T5 |
483-573 |
DRI_Background |
denotes |
However, autopsy brain examination revealed changes of Kufs' disease (Adult onset neuronal |
| T6 |
595-626 |
DRI_Background |
denotes |
, or ANCL, also known as CLN4). |
| T7 |
627-825 |
DRI_Outcome |
denotes |
No specific gross abnormalities were found but light microscopic examination revealed widespread neuronal ballooning and histochemical staining showed neuronal accumulation of PAS-positive material. |
| T8 |
826-931 |
DRI_Outcome |
denotes |
Ultrastructural examination demonstrated excessive and abnormal lipopigment lysosomes typical of neuronal |
| T9 |
953-954 |
DRI_Outcome |
denotes |
. |
| T10 |
955-1069 |
DRI_Outcome |
denotes |
The typical clinical and pathologic features of the Kufs' disease are discussed and the classification of neuronal |
| T11 |
1092-1104 |
DRI_Outcome |
denotes |
is reviewed. |
