Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

Pediatric Neurology

Volumn 41, Issue 1, 2009, Pages 74-76

  Al Muhaizea, Mohammad A ^a   Al Hassnan, Zuhair N ^a,b   Chedrawi, Aziza ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BENZODIAZEPINE DERIVATIVE; CEROID; CLONAZEPAM; LACTIC ACID; LAMOTRIGINE; TOPIRAMATE; VALPROIC ACID;

ARTICLE; ATAXIA; BEHAVIOR DISORDER; BRAIN ATROPHY; CASE REPORT; CHILD; CONJUNCTIVAL BIOPSY; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; DYSKINESIA; DYSPHAGIA; ECHOLALIA; ELECTROENCEPHALOGRAPHY; ELECTRON MICROSCOPY; ENZYME ASSAY; EXON; FEMALE; GAS CHROMATOGRAPHY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTRACTABLE EPILEPSY; LACTATE BLOOD LEVEL; LANGUAGE DISABILITY; MALE; MUSCLE HYPERTONIA; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE DISEASE; PRIORITY JOURNAL; REFLEX DISORDER; SAUDI ARABIA; SEIZURE; SKIN BIOPSY; TANDEM MASS SPECTROMETRY; TENDON REFLEX; TONIC SEIZURE; URINALYSIS;

CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA;

EID: 66349124104     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.01.012     Document Type: Article

References (10)

1. Davidson B.L., Cabrera-Salazar M.A., and Pearce D.A. The neuronal ceroid lipofuscinoses: clinical features and molecular basis of disease. In: Barranger J.A., and Cabrera-Salazar M.A. (Eds). Lysosomal storage disorders (2007), Springer, New York 371-388
2. Wisniewski K.E., Kida E., Golabek A.A., Kaczmarski W., Connell F., and Zhong N. Neuronal ceroid lipofuscinoses: classification and diagnosis. Adv Genet 45 (2001) 1-34
3. Mole S.E., Williams R.E., and Goebel H.H. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6 (2005) 107-126
4. Siintola E., Topcu M., Kohlschütter A., et al. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. Clin Genet 68 (2005) 167-173
5. Mole S.E., Michaux G., Codlin S., Wheeler R.B., Sharp J.D., and Cutler D.F. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res 298 (2004) 399-406
6. Sharp J.D., Wheeler R.B., Parker K.A., Gardiner R.M., Williams R.E., and Mole S.E. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat 22 (2003) 35-42
7. Siintola E., Lehesjoki A.E., and Mole S. Molecular genetics of NCLs: status and perspectives. Biochim Biophys Acta 1762 (2006) 857-864
8. Wheeler R.B., Sharp J.D., Schultz R.A., Joslin J.M., Williams R.E., and Mole S.E. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet 70 (2002) 537-542
9. Mole SE, editor. NCL Mutation Database. Updated Feb. 28, 2009. Accessed Feb. 28, 2009. Available at: http://www.ucl.ac.uk/ncl/mutation.
10. Kousi M., Siintola E., Dvorakova L., et al. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain (2009 Feb 5) [Epub ahead of print]