Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis

Journal of Molecular Neuroscience

Volumn 39, Issue 3, 2009, Pages 337-341

  Amouri, Rim ^a   Nehdi, Houda ^a   Bouhlal, Yosr ^a   Kefi, Mounir ^a   Larnaout, Abdelmajid ^a   Hentati, Fayçal ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

Autosomal recessive disorder; Genetic mutation; Horizontal gaze palsy; Progressive scoliosis

Indexed keywords

PROTEIN ROBO3; ROUNDABOUT RECEPTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY; GAZE; GAZE PARALYSIS; GENE FREQUENCY; GENE MUTATION; GENE SEGREGATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GREECE; HEREDITY; HORIZONTAL GAZE PALSY; HUMAN; INDIAN; ITALY; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTAN; PRESCHOOL CHILD; SAUDI ARABIA; SCHOOL CHILD; SCOLIOSIS; TUNISIA; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; ALLELIC IMBALANCE; BRAIN STEM; CEREBELLUM; CHILD; CHROMOSOME MAPPING; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; OCULAR MOTILITY DISORDERS; RECEPTORS, IMMUNOLOGIC; SCOLIOSIS; TUNISIA; YOUNG ADULT;

EID: 73849119309     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-009-9217-4     Document Type: Article

References (6)

1. Abu-Amero, K. K., al Dhalaan, H., al Zayed, Z., Hellani, A., & Bosley, T. M. (2009). Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. Journal of the Neurological Sciences, 276 (1-2), 22-26.
2. Bosley, T. M., Salih, M. A. M., Jen, J. C., Lin, D. D. M., Oystreck, D., Abu-Amero, K. K., et al. (2005). Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology, 64, 1196-1203.
3. Chan, W., Traboulsi, E., Arthur, B., Friedmen, N., Andrews, C., & Engle, E. C. (2006). Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Journal of Medical Genetics, 43, e11.
4. Jen, J. C., Coulin, C. J., Bosley, T. M., Salih, M. A., Sabatti, C., Nelson, S. F., et al. (2002). Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q 23-25. Neurology, 59(3):432-435.
5. Jen, J. C., Chan, W. M., Bosley, T. M., Wan, J., Carr, J., Rub, U., et al. (2004). Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science, 304, 1509-1513.
6. MacDonald, D. B., Streletz, L. J., Al-Zayed, Z., Abdool, S., & Stigsby, B. (2004). Intraoperative neurophysiologic discovery of uncrossed sensory and motor pathways in a patient with horizontal gaze palsy and scoliosis. Clinical Neurophysiology, 115(3), 576-582.