OBJECTIVE: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. MATERIALS AND METHODS: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent. RESULTS: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. CONCLUSION: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.
OBJECTIVE: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. MATERIALS AND METHODS: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent. RESULTS: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. CONCLUSION: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.
Authors: L I Wallis; P D Griffiths; S J Ritchie; C A J Romanowski; G Darwent; I D Wilkinson Journal: AJNR Am J Neuroradiol Date: 2007-01 Impact factor: 3.825
Authors: N Daniel Berger; Fintan K T Stanley; Shaun Moore; Aaron A Goodarzi Journal: Philos Trans R Soc Lond B Biol Sci Date: 2017-10-05 Impact factor: 6.237
Authors: R Saunders-Pullman; D Raymond; A J Stoessl; D Hobson; K Nakamura; T Nakamura; S Pullman; D Lefton; M S Okun; R Uitti; R Sachdev; K Stanley; M San Luciano; J Hagenah; R Gatti; L J Ozelius; S B Bressman Journal: Neurology Date: 2012-02-15 Impact factor: 9.910