neurogenetics

, Volume 10, Issue 4, pp 307–311

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

  • M. A. Aldahmesh
  • Z. N. Al-Hassnan
  • M. Aldosari
  • F. S. Alkuraya
Original Article

DOI: 10.1007/s10048-009-0185-1

Cite this article as:
Aldahmesh, M.A., Al-Hassnan, Z.N., Aldosari, M. et al. Neurogenetics (2009) 10: 307. doi:10.1007/s10048-009-0185-1

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revisited with the quickly accumulating knowledge of the various genetic defects that underlie this group of genetically heterogeneous disorders. We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). We use clinical data from our patients and the few others that have previously been reported to delineate the phenotype associated with mutations in this gene. We conclude that the phenotype is fairly consistent, which is a helpful guide to clinicians as they decide on the most cost-effective molecular testing strategies for NCLs.

Keywords

Turkish variant Late-infantile NCL Missense Retinitis pigmentosa-like Seizures 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • M. A. Aldahmesh
    • 1
  • Z. N. Al-Hassnan
    • 2
    • 3
  • M. Aldosari
    • 4
  • F. S. Alkuraya
    • 1
    • 3
    • 5
  1. 1.Developmental Genetics Unit, Department of GeneticsKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia
  2. 2.Department of Medical GeneticsKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia
  3. 3.Department of Anatomy and Cell Biology, College of MedicineAlfaisal UniversityRiyadhSaudi Arabia
  4. 4.Department of NeurosciencesKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia
  5. 5.Department of Pediatrics, King Khalid University Hospital and College of MedicineKing Saud UniversityRiyadhSaudi Arabia

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