Literature DB >> 12177379

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.

Joanna Jen1, C J Coulin, T M Bosley, M A M Salih, C Sabatti, S F Nelson, R W Baloh.   

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).

Entities:  

Mesh：

Year:  2002        PMID： 12177379     DOI： 10.1212/wnl.59.3.432

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

1.  MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.

Authors:  Andrea Rossi; Martin Catala; Roberta Biancheri; Raffaella Di Comite; Paolo Tortori-Donati
Journal:  AJNR Am J Neuroradiol       Date:  2004 Jun-Jul       Impact factor: 3.825

Review 2.  Horizontal gaze palsy with progressive scoliosis: CT and MR findings.

Authors:  Rodrigo C Bomfim; Daniel G F Távora; Mauro Nakayama; Rômulo L Gama
Journal:  Pediatr Radiol       Date:  2008-11-20

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

Authors:  Rim Amouri; Houda Nehdi; Yosr Bouhlal; Mounir Kefi; Abdelmajid Larnaout; Fayçal Hentati
Journal:  J Mol Neurosci       Date:  2009-07-25       Impact factor: 3.444

Review 4.  Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

Authors:  A A Assaf
Journal:  Eye (Lond)       Date:  2011-07-01       Impact factor: 3.775

5.  Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

Authors:  G Amoiridis; M Tzagournissakis; P Christodoulou; S Karampekios; H Latsoudis; T Panou; P Simos; A Plaitakis
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-06-13       Impact factor: 10.154

Review 6.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

7.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

8.  Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Authors:  Joanna C Jen; Wai-Man Chan; Thomas M Bosley; Jijun Wan; Janai R Carr; Udo Rüb; David Shattuck; Georges Salamon; Lili C Kudo; Jing Ou; Doris D M Lin; Mustafa A M Salih; Tülay Kansu; Hesham Al Dhalaan; Zayed Al Zayed; David B MacDonald; Bent Stigsby; Andreas Plaitakis; Emmanuel K Dretakis; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Qing Wang; Lejin Wang; Caroline Andrews; Koki Yamada; Joseph L Demer; Shaheen Karim; Jeffry R Alger; Daniel H Geschwind; Thomas Deller; Nancy L Sicotte; Stanley F Nelson; Robert W Baloh; Elizabeth C Engle
Journal:  Science       Date:  2004-04-22       Impact factor: 47.728

9.  Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review.

Authors:  Ayse Dolar Bilge
Journal:  Neuroophthalmology       Date:  2019-01-31

10.  Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.

Authors:  Sven Haller; Stephan G Wetzel; Jürg Lütschg
Journal:  Neuroradiology       Date:  2008-05       Impact factor: 2.804
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