DTI measurements of non-decussating fibers in defective axon guidance disorders (Horizontal gaze palsy and progressive scoliosis and Joubert syndrome)

2015 ◽  
Vol 02 (02) ◽  
pp. 131-139
Author(s):  
Antoine Poncet ◽  
Laura Merlini
Keyword(s):  
Axon Guidance ◽  
Joubert Syndrome ◽  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy

Horizontal Gaze Palsy and Rapidly Progressive Scoliosis: Typical Findings in ROBO3 Mutations

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
J. Koch ◽  
F. Landauer ◽  
T. Keindl ◽  
M. Sloman
Keyword(s):  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters

2011 ◽  
Vol 59 (2) ◽  
pp. 162 ◽  
Author(s):  
NitinR Jain ◽  
Jitendra Jethani ◽  
Kalpana Narendran ◽  
L Kanth
Keyword(s):  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review

2020 ◽  
Vol 17 (12) ◽  
pp. 4467
Author(s):  
Elena Pinero-Pinto ◽  
Verónica Pérez-Cabezas ◽  
Cristina Tous-Rivera ◽  
José-María Sánchez-González ◽  
Carmen Ruiz-Molinero ◽  
...  
Keyword(s):  
Systematic Review ◽  
Rapid Progression ◽  
Childhood And Adolescence ◽  
Progressive Scoliosis ◽  
Chromosome 11Q23 ◽  
Horizontal Gaze ◽  
Meta Analyses ◽  
Gaze Palsy ◽  
Made In

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (ROBO3) gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. This study carried out a systematic review in which 25 documents were analyzed, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. The search was made in the following electronic databases from January 1995 to October 2019: PubMed, Scopus, Web of Science, PEDRO, SPORT Discus, and CINAHL. HGPPS requires a multidisciplinary diagnostic approach, in which magnetic resonance imaging might be the first technique to suggest the diagnosis, which should be verified by an analysis of the ROBO3 gene. This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling.

Horizontal gaze palsy and progressive scoliosis—a tale of two siblings with ROBO3 mutation

2020 ◽  
Vol 41 (1) ◽  
pp. 99-100
Author(s):  
Poornima Narayanan Nambiar ◽  
Santha Kumar S ◽  
Ramshekhar Menon ◽  
Sruthi S Nair ◽  
GK Madhavilatha ◽  
...  
Keyword(s):  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

2008 ◽  
Vol 50 (5) ◽  
pp. 453-459 ◽  
Author(s):  
Sven Haller ◽  
Stephan G. Wetzel ◽  
Jürg Lütschg
Keyword(s):  
Functional Mri ◽  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy
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