Table 1 General characteristics and psychiatric manifestations in 19 adult NP-C patients
Disease characteristics | Development | ||||||||
|---|---|---|---|---|---|---|---|---|---|
Patient ID | Gender | Age at first manifestations | First manifestations | Psychosis | Age at diagnosis | Age at last follow-up | Psychomotor delay | Learning disorder | Autistic symptoms in childhood |
1 | F | 10 | Ataxia, dysarthria, dysphagia | + | 18 | 36a | + | − | NA |
2 | F | 12 | VSGP, ataxia | + | 22 | 34a | + | − | + |
3 | M | 15 | Ataxia | + | 23 | 32 | + | − | NA |
4 | M | 16 | Psychosis, cognitive | + | 32 | 38 | NA | NA | − |
5 | M | 16 | Psychosis, cognitive | + | 24 | 40 | − | + | + |
6 | F | 18 | Psychosis, cognitive | + | 33 | 50a | + | − | − |
7 | M | 19 | Ataxia, dysarthria, dysphagia | + | 23 | 24 | + | + | + |
8 | M | 20 | Psychosis | + | 25 | 33 | − | − | NA |
9 | F | 25 | Psychosis, ataxia, cognitive | + | 27 | 36 | − | − | − |
10 | F | 30 | Pyschosis | + | 41 | 57a | − | − | NA |
11 | F | 13 | Ataxia | − | 22 | 31 | − | + | − |
12 | M | 16 | VSGP, dysarthria, cognitive | − | 20 | 28 | NA | NA | NA |
13 | M | 16 | Ataxia, dysarthria | − | 23 | 27 | − | − | − |
14 | F | 16 | VSGP | − | 28 | 56a | − | + | − |
15 | M | 18 | Cognitive | − | 33 | 35 | − | − | NA |
16 | M | 18 | Deafness, cognitive and behavioural | − | 35 | 41 | − | + | − |
17 | M | 27 | Ataxia, deafness | − | 36 | 44 | − | − | − |
18 | M | 32 | Deafness, cognitive | − | 33 | 42 | + | + b | − |
19 | F | 50 | Deafness | − | 65 | 65 | − | − | − |
Means or percentage | 11 M/8F | 20.37 | 52 (10/19) | 29.63 | 36.86 | 35 (6/17) | 35 (6/17) | 23 (3/13) | |
Thymic symptoms | Behavioural symptoms | Cognitive disorder | Treatment | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Depressive symptoms | Anxiety symptoms | Emotional hyper reactivity | Excessive spending | Impaired social cognition | Affective blunting | Desinhibition | Social retreat | Apathy | Stereotypies | Miglustat (Mgst) | |
− | NA | + | − | + | + | − | + | + | NA | + | + c |
+ | + | + | + | + | + | + | − | − | NA | + | + |
+ | + | + | − | NA | − | + | + | + | NA | + | + |
+ | + | + | + | NA | NA | + | + | + | NA | + | + |
− | NA | − | − | + | − | + | + | + | + | + | − |
− | NA | + | NA | NA | NA | NA | NA | + | NA | + | − |
+ | + | + | + | + | + | − | + | + | + | + | + |
− | − | − | + | + | + | + | + | + | + | + | + |
− | NA | − | + | + | − | + | + | + | + | + | + |
+ | NA | + | − | + | − | + | + | + | NA | + | − |
− | − | − | − | + | + | + | + | + | − | + | + |
NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + |
− | − | + | − | + | + | − | − | − | − | + | + |
− | − | − | NA | − | − | − | − | − | − | + | + d |
− | − | − | + | NA | + | NA | + | + | NA | + | + |
+ | + | + | NA | + | + | − | + | + | − | + | + |
− | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + |
− | − | NA | NA | + | + | + | + | + | + | + | + |
− | − | − | − | − | − | − | − | − | − | − | + |
33 (6/18) | 42 (5/12) | 56 (9/16) | 46 (6/13) | 84 (11/13) | 84 (1/13) | 60 (9/15) | 75 (12/16) | 76 (13/17) | 50 (5/10) | 95 (18/19) | 84 (16/19) |