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Table 1 Clinical phenotype and genotype of NPC patients

From: Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene

Patient no Gender, ID and age Consanguinity Visceral and neurological manifestations, age of onset and clinical outcome Brain MRI Mutation
1 F, AAa
8 years
1st cousins Hepatosplenomegaly at 6 months. Developmental delay at 2 years. Aggressive behavior, temper tantrums and sleep disturbances at 3 years. VSGP, ataxia, gelastic cataplexy, frequent falls, urinary and fecal incontinence at 5 years Normal p.G992W (G > T)
2 F, JAa
4 years
1st cousins Neonatal cholestatic jaundice. Hepatosplenomegaly at 2 weeks. Isolated splenomegaly at 1½ years. Developmental delay at 2 years Not performed
3 M, MMe
20 years
1st cousins Neonatal cholestatic jaundice. Hepatosplenomegaly at 1 week. Ascites at 3 months. Low platelets at 5 years. VSGP at 11 years. Cognitive impairment, hyperactivity, poor concentration and aggressive behavior at 13 years. Ataxia at 15 years. Frequent falls, swallowing problems, speech problems, tonic–clonic seizure, absence seizure and gelastic cataplexy at 16 years Normal
4 F, EAe
4 years
1st cousins once removed Neonatal cholestatic jaundice. Hepatosplenomegaly at 2 weeks Not performed
5 F, DAe
2 years
1st cousins Neonatal cholestatic jaundice. Hepatosplenomegaly at 1 month Not performed
6 M, ASb
2 years
1st cousins Neonatal cholestatic jaundice. Hepatosplenomegaly and central hypotonia at 3 months. Mild speech delay, normal cognition, behavior and gait at 2 years Not performed
7 M, MSb
6 years
1st cousins Neonatal cholestatic jaundice. Hepatosplenomegaly, ascites and thrombocytopenia at 3 months. Central hypotonia and swallowing problems at 1 year. Sleep disturbance at 3 years. Ataxia at 4 years Not performed
8 M, YSc
9 years
1st cousins Splenomegaly at 3 years. Developmental delay at 2 years. Gelastic cataplexy, cognitive impairment, hyperactivity and poor attention at 4 years. Urinary and fecal incontinence at 5 years. VSGP, speech problem and swallowing problems at 6 years. Ataxia, frequent falls, spasticity and tonic–clonic seizure at 6.5 years Increased signal intensity on T2-weighted images in the cerebral white matter
9 M, ASc
12 years
1st cousins Hepatosplenomegaly at 3 years. VSGP, frequent falls and developmental delay at 2½ years. Ataxia at 3½ years. Speech problem and swallowing problems at 4 years. Spasticity at 4½ years. Gelastic cataplexy and cognitive impairment at 5 years. Absence seizure at 10½ years Not performed
10 M, MSc
7 yearsf
1st cousins Hepatosplenomegaly at 2 years. VSGP, spasticity and inability to walk at 4 years. Speech and swallowing problems, gelastic cataplexy, urinary and fecal incontinence at 5 years. Tonic-clonic seizure and cognitive impairment at 6 years Not performed
11 F, SYd
14 years
1st cousins Splenomegaly and VSGP at 5 years. Ataxia at 6 years Normal
12 F, SAa
13 years
1st cousins Splenomegaly, VSGP, ataxia, speech and swallowing problems, absence seizure, cognitive impairment and sleep disturbance at 5 years. Gelastic cataplexy at 7 years Normal
13 F, RSb
1st cousins Hepatosplenomegaly at 1 year. Frequent falls at 3 years. VSGP, ataxia, swallowing and speech problems, gelastic cataplexy, cognitive impairment, poor school performance, aggressive behavior and sleep disturbances at 4 years Not performed
14 F, GYd
26 yearsf
1st cousins Ataxia at 15 years. VSGP and cognitive impairment and abnormal behavior at 20 years. Spasticity at 21 years. Speech problem and swallowing problems at 22 years. Frequent falls at 23 years. Urinary incontinence at 24 years Not performed
15 F, IZ
31 years
2nd cousins Ataxia at 19 years. VSGP and spasticity at 21 years. Splenomegaly, Speech and swallowing problems at 24 years. Urinary and fecal incontinence at 27 years. Cognitive impairment and abnormal behavior at 28 years Atrophic changes in the cerebellar hemisphere A927V (C > T)
16 M, KH
2 years
1st cousins Cholestatic jaundice. Hepatosplenomegaly at 3 months. Hypotonia and motor delay at 1 year. Thrombocytopenia at 1 year Normal p.V845Cfs*24
(Novel)
  1. aPatients (#1, #2, #12) belong to the same family
  2. bPatients (#6, #7, #13) belong to the same family
  3. cPatients (# 8, #9, #10) belong to the same family
  4. dPatients (#11, #14) belong to the same families
  5. ePatients (#3, #4, #5): Each belong to a different family
  6. fThe patient was dead at the time of conducting the study