1
|
(HPO:0000605)
|
Supranuclear gaze palsy |
|
|
|
|
16 / 7739
|
2
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
4
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
5
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
6
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
7
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
8
|
(HPO:0000746)
|
Delusions |
|
|
|
|
21 / 7739
|
9
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
10
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
11
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
12
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
13
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
14
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
15
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
16
|
(HPO:0005327)
|
Loss of facial expression |
|
|
|
|
2 / 7739
|
17
|
(HPO:0007076)
|
Extrapyramidal muscular rigidity |
|
|
|
|
2 / 7739
|
18
|
(OMIM)
|
Diminished visual activity |
|
|
|
|
2 / 7739
|
19
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
20
|
(OMIM)
|
Pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Brain PrP-immunoreactive amyloid plaques (in 10% if patients with sporadic CJD and in variant CJD) |
|
|
|
|
2 / 7739
|
22
|
(OMIM)
|
Characteristic periodic EEG complexes (only in sporadic and familial CJD, not in variant CJD) |
|
|
|
|
2 / 7739
|
23
|
(OMIM)
|
Psychiatric abnormalities (more common in patients with atypical disease and slow progression) |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Normal cerebrospinal fluid |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Occasionally mild elevation of CSF protein |
|
|
|
|
2 / 7739
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
27
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
28
|
(HPO:0002922)
|
Increased CSF protein |
Rare [HPO]
|
|
|
|
27 / 7739
|
29
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|