We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy.
- Authors
Fusco, Carlo; Russo, Angelo; Galla, Daniela; Hladnik, Uros; Frattini, Daniele; Giustina, Elvio Della
- Abstract
Niemann-Pick type C is an autosomal recessive lipid storage disease caused by mutations in the NPC1 or NPC2 gene. In childhood-onset Niemann-Pick type C, the usual course is slowly progressive, with normal cerebral magnetic resonance at onset. Here the authors present the case of a patient carrying 2 compound heterozygous NPC1 mutations: the known nonsense mutation (p.Trp833X) in exon 16 and a novel missense mutation (p.Ile609Phe) in exon 12. At onset, the patient presented ataxia, cognitive decline, and epilepsy, with early cerebral atrophy and marked cerebellar vermis atrophy. The course of the disease was rapid, and the patient died within 1-2 years of onset. A possible phenotype-genotype correlation is discussed. This case further expands the clinical spectrum and the genetic heterogeneity of Niemann-Pick type C due to NPC1 mutations.
- Subjects
NIEMANN-Pick diseases; GENETIC mutation; JOUBERT syndrome; CEREBRAL atrophy; GENETIC carriers
- Publication
Journal of Child Neurology, 2013, Vol 28, Issue 12, p1694
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073812462765