|
1
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
3
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000751)
|
Personality changes |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
11
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
12
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
19
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0002185)
|
Neurofibrillary tangles |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
25
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
26
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
27
|
(OMIM)
|
Rapid weight loss late in the disease |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
29
|
(MedDRA:10034703)
|
Perseveration |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Amyloid-like plaques, immunoreactive to PrP, predominantly in the cerebellum |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Amyloid-like plaques are not immunoreactive to APP (104760) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
PRNP-immunoreactive cerebral amyloid angiopathy (in some patients) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Neurofibrillary tangles may be present |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Spongiform changes are mild or may not be present |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Some patients have periodic wave complexes on EEG |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Dysesthesias of the lower limbs |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
38
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
39
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
40
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
41
|
(HPO:0030223)
|
Perseveration |
|
|
|
|
5 / 7739
|