Literature DB >> 3772410

Ataxia telangiectasia in identical twins: unusual features.

C M Meshram, I M Sawhney, S Prabhakar, J S Chopra.   

Abstract

The cases of identical twins with ataxia telangiectasia, early intellectual impairment and progressive spasticity are reported. Immunological tests revealed reduced levels of serum and salivary IgA, increased B cells, reduced T cells and raised alpha-fetoprotein. CT scan performed in one of the twins was normal. The pathogenesis of the spasticity is discussed.

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Year:  1986        PMID: 3772410     DOI: 10.1007/bf00314163

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  6 in total

1.  Specific chromosome aberrations in ataxia telangiectasia.

Authors:  J M Oxford; D G Harnden; J M Parrington; J D Delhanty
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

2.  Neuropathologic changes in ataxia-telangiectasia.

Authors:  G A De León; W D Grover; D S Huff
Journal:  Neurology       Date:  1976-10       Impact factor: 9.910

3.  Ataxia-telangiectasia.

Authors:  D E McFarlin; W Strober; T A Waldmann
Journal:  Medicine (Baltimore)       Date:  1972-07       Impact factor: 1.889

4.  Ataxia-Telangiectasia: a multiparameter analysis of eight families.

Authors:  R A Gatti; M Bick; C F Tam; M A Medici; V A Oxelius; M Holland; A L Goldstein; E Boder
Journal:  Clin Immunol Immunopathol       Date:  1982-05

5.  Presumed ataxia-telangiectasia in a man.

Authors:  T R Terenty; P Robson; J N Walton
Journal:  Br Med J       Date:  1978-09-16

6.  Computerized tomographic findings in a case of ataxia-telangiectasia (Louis-Bar syndrome).

Authors:  M Scharnetzky; A Kohlschütter; H Krtsch
Journal:  Neuropediatrics       Date:  1980-11       Impact factor: 1.947

  6 in total
  3 in total

Review 1.  Radiological imaging in ataxia telangiectasia: a review.

Authors:  Ishani Sahama; Kate Sinclair; Kerstin Pannek; Martin Lavin; Stephen Rose
Journal:  Cerebellum       Date:  2014-08       Impact factor: 3.847

2.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752

3.  Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

Authors:  Stephan Borte; Magdalena Janzi; Qiang Pan-Hammarström; Ulrika von Döbeln; Lennart Nordvall; Jacek Winiarski; Anders Fasth; Lennart Hammarström
Journal:  PLoS One       Date:  2012-08-16       Impact factor: 3.240

  3 in total

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