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Table 1 Case profiles

From: Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

  Case 1 Case 2 Case 3
Age at onset (years) 11 27 22
Initial symptom Intellectual disability Painful dystonia Schizophrenia
Age at diagnosis (years) 25 28 35
Visceral signs
 Splenomegaly Mild Mild Mild
 Neonatal jaundice + None None
Neurological signs
 VSGP + None None
 Dysphagia + None None
 Spastic ataxia + None None
 IVM Chorea, athetosis, dystonia, myoclonus Dystonia None
Psychiatric signs
 Cognitive decline + None None
 Psychotic symptoms + + +
NPC-SI a
 Percentile 98% 18% 32%
 RPS 183 47 67
Filipin pattern Variant Variant Variant
ASM activity 221 213 165
(nmol/mg protein/h) 99% of control 95% of control 73% of control
Phenotype (cDx) Juvenile Adult Adult
NPC1 gene mutations
 Father c.1421C > T c.3011C > T c.3011C > T
(p.P474L) (p.S1004 L) (p.S1004 L)
 Mother c.3722 T > C c.160_161insG c.160_161insG
(p.L1241S) (p.D54GfsX4) (p.D54GfsX4)
Brain MRI Sl. atrophic Normal Sl. atrophic
Hypoperfusion on ECD-SPECT Frontal Frontal Frontal
CSF Analysis
 p-Tau (<  55) 59 pg/mL 47 pg/mL 36 pg/mL
 h-Tau (<  300) 371 pg/mL 214 pg/mL 188 pg/mL
Cupper
 Serum Cu (>  68) 76 μg/dL 82 μg/dL 88 μg/dL
 Serum Cp (>  21) 22 mg/dL 18 mg/dL 22 mg/dL
 Urine Cu (>  20) NA NA 32 μg/day
Urine bile acid b
 SNAG-Δ5-CT (<  11) NA 13 ng/mL 92 ng/mL
 SNAG-Δ5-CA (<  282) NA 42 ng/mL 317 ng/mL
 SNAG-Δ5-CG (<  258) NA 69 ng/mL 481 ng/mL
  1. Abbreviations: ASM Acid sphingomyelinase; cDx Clinical diagnosis; Cp Ceruloplasmin; CSF Cerebrospinal fluid; Cu Copper; ECD-SPECT Technetium-99 m ethyl cysteinate dimer-single photon emission computed tomography; h-Tau Human tau protein; IVM Involuntary movements; MRI Magnetic resonance imaging; NA Not assessed; NPC-SI Niemann-Pick disease type C-suspicion index; p-Tau Phosphorylated tau protein; RPS Risk prediction score; VSGP Vertical supranuclear gaze palsy
  2. a) Hendriksz CJ, et al. J Rare Disord. 2015 [4]. b) Maekawa M, et al. Steroids. 2013 [7]