Table 1

The clinical features of the patients with NIID

VariablesCase number
P1P2P3P4P5P6P7P81*P92*P103*P114* P124* P135* P145* P155*
Age/sex (years)61/m68/m36/f52/m69/m16/m66/f65/f59/f69/f54/f53/m65/m66/f69/m
Disease duration9 years2 years3 years18 years20 years8 months17 years9 months8 months4 years2 years6 months29 years6 years22 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 1226101516927242152021212221
FAB (age match average) 617912ND3ND15144NDNDNDNDND
CSF protein (mg/dL) 1251155510673135ND818958NDNDNDNDND
  • *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.