✦ LIBER ✦

Atypical clinical presentation of ataxia telangiectasia

✍ Scribed by Willems, Patrick J. ;Van Roy, Bernadette C. ;Kleijer, Wim J. ;Van der Kraan, Magna ;Martin, Jean-Jacques

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 669 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450624

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ataxia-telangiectasia: Mild neurological

Ataxia-telangiectasia: Mild neurological presentation despite null ATM mutation and severe cellular phenotype

✍ Neora Alterman; Aviva Fattal-Valevski; Lilach Moyal; Thomas O. Crawford; Howard 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB

Late-onset ataxia telangiectasia in two

Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor

✍ J. A. P. Hiel; C. M. R. Weemaes; D. F. C. M. Smeets; C. J. W. van de Vlasakker; 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 284 KB

## Abstract Two young adult brothers presented with a 5‐ to 6‐Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased α‐fetoprotein levels indicated the presence of ataxi

Friedreich's ataxia: Point mutations and

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

✍ Mireille Cossée; Alexandra Dürr; Michèle Schmitt; Niklas Dahl; Paul Trouillas; P 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 2 views

Mutations at the ataxia-telangiectasia l

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

✍ Li, Airong; Swift, Michael 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB 👁 1 views

## Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer, ischemic heart disease, and early mortality. PCR amplification from genomic DNA and automated sequencing of the enti

Slowly progressive cerebellar ataxia and

Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?

✍ Mikko Kuoppamäki; Paula Giunti; Niall Quinn; Nicholas W. Wood; Kailash P. Bhatia 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

## Abstract We describe 5 cases with a rare combination of young‐onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom

Ataxia telangiectasia: A reappraisal of

Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

✍ Dr. R. Stell; A. M. Bronstein; G. T. Plant; A. E. Harding 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 642 KB

The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients