Literature DB >> 16864838

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

J A P Hiel1, B G M van Engelen, C M R Weemaes, A Broeks, A Verrips, H ter Laak, H M Vingerhoets, L P W van den Heuvel, M Lammens, F J M Gabreëls, J I Last, A M R Taylor.   

Abstract

The authors report four adult-onset ataxia telangiectasia (AT) patients belonging to two families lacking pronounced cerebellar ataxia but displaying distal spinal muscular atrophy. AT was proven by genetic studies showing ATM mutations and a reduced level of ATM. ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT.

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Year:  2006        PMID： 16864838     DOI： 10.1212/01.wnl.0000224878.22821.23

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


  11 in total

1.  New mutations in the ATM gene and clinical data of 25 AT patients.

Authors:  Ilja Demuth; Véronique Dutrannoy; Wilson Marques; Heidemarie Neitzel; Detlev Schindler; Petja S Dimova; Krystyna H Chrzanowska; Veneta Bojinova; Hanna Gregorek; Luitgard M Graul-Neumann; Arpad von Moers; Ilka Schulze; Marion Nicke; Elcin Bora; Tufan Cankaya; Éva Oláh; Csongor Kiss; Beáta Bessenyei; Katalin Szakszon; Ursula Gruber-Sedlmayr; Peter Michael Kroisel; Sigrun Sodia; Timm O Goecke; Thilo Dörk; Martin Digweed; Karl Sperling; Joaquim de Sá; Charles Marques Lourenco; Raymonda Varon
Journal:  Neurogenetics       Date:  2011-10-02       Impact factor: 2.660

2.  Clinical variability in ataxia-telangiectasia.

Authors:  Ebba Lohmann; Stefanie Krüger; Ann-Kathrin Hauser; Hasmet Hanagasi; Gamze Guven; Nihan Erginel-Unaltuna; Saskia Biskup; Thomas Gasser
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849

3.  Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Authors:  Hoo Young Lee; Dae-Hyun Jang; Jae-Won Kim; Dong-Woo Lee; Ja-Hyun Jang; Joungsu Joo
Journal:  BMC Med Genomics       Date:  2021-08-17       Impact factor: 3.063

4.  Atypical presentation of late-onset Tay-Sachs disease.

Authors:  Andres Deik; Rachel Saunders-Pullman
Journal:  Muscle Nerve       Date:  2014-02-24       Impact factor: 3.217

5.  Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Authors:  Kathleen Claes; Julie Depuydt; A Malcolm R Taylor; James I Last; Annelot Baert; Peter Schietecatte; Veerle Vandersickel; Bruce Poppe; Kim De Leeneer; Marc D'Hooghe; Anne Vral
Journal:  Neuromolecular Med       Date:  2013-04-30       Impact factor: 3.843

6.  Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle.

Authors:  James Kain Ching; Stephen H Luebbert; Roy L Collins; Zhihong Zhang; Nandhini Marupudi; Sankha Banerjee; Robin D Hurd; Lyle Ralston; Jonathan S Fisher
Journal:  Exp Physiol       Date:  2012-08-31       Impact factor: 2.969

7.  Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

Authors:  A Reiman; V Srinivasan; G Barone; J I Last; L L Wootton; E G Davies; M M Verhagen; M A Willemsen; C M Weemaes; P J Byrd; L Izatt; D F Easton; D J Thompson; A M Taylor
Journal:  Br J Cancer       Date:  2011-07-26       Impact factor: 7.640

8.  Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

Authors:  P J Byrd; V Srinivasan; J I Last; A Smith; P Biggs; E F Carney; A Exley; C Abson; G S Stewart; L Izatt; A M Taylor
Journal:  Br J Cancer       Date:  2011-12-06       Impact factor: 7.640

Review 9.  Ataxia telangiectasia: a review.

Authors:  Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman
Journal:  Orphanet J Rare Dis       Date:  2016-11-25       Impact factor: 4.123

10.  Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Authors:  Katherine Schon; Nienke J H van Os; Nicholas Oscroft; Helen Baxendale; Daniel Scoffings; Julian Ray; Mohnish Suri; William P Whitehouse; Puja R Mehta; Natasha Everett; Leonardo Bottolo; Bart P van de Warrenburg; Philip J Byrd; Corry Weemaes; Michel A Willemsen; Marc Tischkowitz; A Malcolm Taylor; Anke E Hensiek
Journal:  Ann Neurol       Date:  2019-02       Impact factor: 10.422
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