Literature DB >> 12445928

Familial syringomyelia: the first Japanese case and review of the literature.

Ichiro Yabe1, Seiji Kikuchi, Kunio Tashiro.   

Abstract

We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder.

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Year:  2002        PMID: 12445928     DOI: 10.1016/s0303-8467(02)00091-4

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


  7 in total

1.  Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases.

Authors:  R Lee Murphy; R Shane Tubbs; Paul A Grabb; W Jerry Oakes
Journal:  Childs Nerv Syst       Date:  2007-05-30       Impact factor: 1.475

2.  Chiari I malformation and idiopathic growth hormone deficiency in siblings.

Authors:  R L Murphy; R S Tubbs; P A Grabb; W J Oakes
Journal:  Childs Nerv Syst       Date:  2006-01-18       Impact factor: 1.475

3.  Familial adhesive arachnoiditis associated with syringomyelia.

Authors:  V Pasoglou; N Janin; M Tebache; T J Tegos; J D Born; L Collignon
Journal:  AJNR Am J Neuroradiol       Date:  2014-01-30       Impact factor: 3.825

4.  Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

Authors:  Christina A Markunas; R Shane Tubbs; Roham Moftakhar; Allison E Ashley-Koch; Simon G Gregory; W Jerry Oakes; Marcy C Speer; Bermans J Iskandar
Journal:  J Neurosurg Pediatr       Date:  2012-04       Impact factor: 2.375

5.  Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature.

Authors:  Gaurav G Mavinkurve; Daniel Sciubba; Eric Amundson; George I Jallo
Journal:  Childs Nerv Syst       Date:  2005-04-09       Impact factor: 1.475

6.  Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

Authors:  Christina A Markunas; Karen Soldano; Kaitlyn Dunlap; Heidi Cope; Edgar Asiimwe; Jeffrey Stajich; David Enterline; Gerald Grant; Herbert Fuchs; Simon G Gregory; Allison E Ashley-Koch
Journal:  PLoS One       Date:  2013-04-19       Impact factor: 3.240

7.  Triple A (Allgrove) syndrome: an unusual association with syringomyelia.

Authors:  Carla Bizzarri; Danila Benevento; Cesare Terzi; Angela Huebner; Marco Cappa
Journal:  Ital J Pediatr       Date:  2013-06-24       Impact factor: 2.638

  7 in total

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