1
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
2
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
5
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
6
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
8
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
9
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
10
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
11
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
12
|
(HPO:0002185)
|
Neurofibrillary tangles |
|
|
|
|
14 / 7739
|
13
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
14
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
15
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
16
|
(HPO:0002511)
|
Alzheimer disease |
|
|
|
|
10 / 7739
|
17
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
18
|
(HPO:0010524)
|
Agnosia |
Occasional [HPO:skoehler]
|
|
|
|
6 / 7739
|
19
|
(OMIM)
|
Alzheimer disease, early-onset |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Loss of language ability |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Visuospatial agnosia (in a subset of patients) |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Optic ataxia (in a subset of patients) |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Cortical and subcortical regions involved |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Amyloid plaques |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Eosinophilic 'cotton wool' plaques without dense congophilic core in various brain regions |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Loss of attention |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Loss of executive function |
|
|
|
|
2 / 7739
|
28
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
29
|
(OMIM)
|
Social withdrawal |
|
|
|
|
2 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
31
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
32
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|