The clinical features of the patients with NIID
Variables | Case number | ||||||||||||||
P1 | P2 | P3 | P4 | P5 | P6 | P7 | P81* | P92* | P103* | P114* | P124* | P135* | P145* | P155* | |
Age/sex (years) | 61/m | 68/m | 36/f | 52/m | 69/m | 16/m | 66/f | 65/f | 59/f | 69/f | 54/f | 53/m | 65/m | 66/f | 69/m |
Disease duration | 9 years | 2 years | 3 years | 18 years | 20 years | 8 months | 17 years | 9 months | 8 months | 4 years | 2 years | 6 months | 29 years | 6 years | 22 years |
Clinical features | |||||||||||||||
Cognitive impairment (93.3%) | + | – | + | + | + | + | + | + | + | + | + | + | + | + | + |
Episodic encephalopathy (66.7%) | + | – | – | + | + | + | – | – | – | + | + | + | + | + | + |
Bladder dysfunction (60.0%) | + | + | – | – | + | + | + | + | – | + | – | – | + | + | – |
Abnormal behaviour (53.3%) | + | + | – | + | + | + | – | – | – | + | + | – | + | – | – |
Convulsion (53.3%) | – | – | – | + | + | + | + | – | – | + | + | – | + | + | – |
Muscle weakness (53.3%) | + | – | – | – | + | + | + | – | – | + | + | + | + | – | – |
Sensory disturbance (46.7%) | + | – | – | + | + | – | + | – | – | + | – | + | + | – | – |
Dysarthria (46.7%) | – | – | – | + | + | + | – | – | + | + | – | – | + | + | – |
Visual abnormality (53.3%) | – | – | + | + | + | + | + | – | + | + | – | – | – | – | + |
Miosis (40.0%) | + | + | – | + | + | – | – | – | – | + | – | – | + | – | – |
Tremor (40.0%) | – | + | – | – | + | – | + | – | – | + | – | – | – | + | + |
Rigidity (40.0%) | – | – | – | – | + | + | + | – | – | + | – | – | – | + | + |
Ataxia (33.3%) | – | – | – | + | + | – | – | – | + | + | – | – | – | + | – |
Hypertension (86.7%) | + | + | + | + | + | – | + | + | – | + | + | + | + | + | + |
MMSE | 12 | 26 | 10 | 15 | 16 | 9 | 27 | 24 | 21 | 5 | 20 | 21 | 21 | 22 | 21 |
FAB (age match average) | 6 | 17 | 9 | 12 | ND | 3 | ND | 15 | 14 | 4 | ND | ND | ND | ND | ND |
CSF protein (mg/dL) | 125 | 115 | 55 | 106 | 73 | 135 | ND | 81 | 89 | 58 | ND | ND | ND | ND | ND |
*Number indicating family history and family number.
CSF, cerebrospinal fluid; FAB, Frontal Assessment Battery; MMSE, Mini-Mental State Examination; ND, not done; NIID, neuronal intranuclear inclusion disease.