Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Identifieur interne : 001093 ( Main/Exploration ); précédent : 001092; suivant : 001094Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Auteurs : R. Saunders-Pullman ; D. Raymond ; A. J. Stoessl ; D. Hobson ; 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. BressmanSource :
- Neurology [ 0028-3878 ] ; 2012.
Abstract
To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research.
Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D)
Genetic analysis revealed a homozygous founder mutation in
Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia.
Url:
DOI: 10.1212/WNL.0b013e3182494d51
PubMed: 22345219
PubMed Central: 3286230
Affiliations:
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<author><name sortKey="Saunders Pullman, R" sort="Saunders Pullman, R" uniqKey="Saunders Pullman R" first="R." last="Saunders-Pullman">R. Saunders-Pullman</name>
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<author><name sortKey="Raymond, D" sort="Raymond, D" uniqKey="Raymond D" first="D." last="Raymond">D. Raymond</name>
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<author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name>
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<author><name sortKey="Hobson, D" sort="Hobson, D" uniqKey="Hobson D" first="D." last="Hobson">D. Hobson</name>
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<author><name sortKey="Nakamura, T" sort="Nakamura, T" uniqKey="Nakamura T" first="T." last="Nakamura">T. Nakamura</name>
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<author><name sortKey="Lefton, D" sort="Lefton, D" uniqKey="Lefton D" first="D." last="Lefton">D. Lefton</name>
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<author><name sortKey="Sachdev, R" sort="Sachdev, R" uniqKey="Sachdev R" first="R." last="Sachdev">R. Sachdev</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites</title>
<author><name sortKey="Saunders Pullman, R" sort="Saunders Pullman, R" uniqKey="Saunders Pullman R" first="R." last="Saunders-Pullman">R. Saunders-Pullman</name>
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<author><name sortKey="Raymond, D" sort="Raymond, D" uniqKey="Raymond D" first="D." last="Raymond">D. Raymond</name>
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<author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name>
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<author><name sortKey="Hobson, D" sort="Hobson, D" uniqKey="Hobson D" first="D." last="Hobson">D. Hobson</name>
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<author><name sortKey="Nakamura, T" sort="Nakamura, T" uniqKey="Nakamura T" first="T." last="Nakamura">T. Nakamura</name>
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<author><name sortKey="Pullman, S" sort="Pullman, S" uniqKey="Pullman S" first="S." last="Pullman">S. Pullman</name>
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<author><name sortKey="Lefton, D" sort="Lefton, D" uniqKey="Lefton D" first="D." last="Lefton">D. Lefton</name>
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<author><name sortKey="Okun, M S" sort="Okun, M S" uniqKey="Okun M" first="M. S." last="Okun">M. S. Okun</name>
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<author><name sortKey="Uitti, R" sort="Uitti, R" uniqKey="Uitti R" first="R." last="Uitti">R. Uitti</name>
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<author><name sortKey="Sachdev, R" sort="Sachdev, R" uniqKey="Sachdev R" first="R." last="Sachdev">R. Sachdev</name>
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<author><name sortKey="Stanley, K" sort="Stanley, K" uniqKey="Stanley K" first="K." last="Stanley">K. Stanley</name>
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<author><name sortKey="San Luciano, M" sort="San Luciano, M" uniqKey="San Luciano M" first="M." last="San Luciano">M. San Luciano</name>
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<author><name sortKey="Hagenah, J" sort="Hagenah, J" uniqKey="Hagenah J" first="J." last="Hagenah">J. Hagenah</name>
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<author><name sortKey="Gatti, R" sort="Gatti, R" uniqKey="Gatti R" first="R." last="Gatti">R. Gatti</name>
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<author><name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L. J." last="Ozelius">L. J. Ozelius</name>
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<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research.</p>
</sec>
<sec><title>Methods:</title>
<p>Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D) <italic>ATM</italic>
mutation and mutations in <italic>DYT1</italic>
and <italic>DYT6</italic>
. Clinical features of the individuals with dystonia who were harboring <italic>ATM</italic>
mutations were compared with those of individuals without mutations.</p>
</sec>
<sec><title>Result:</title>
<p>Genetic analysis revealed a homozygous founder mutation in <italic>ATM</italic>
in 13 members from 3 of the families, and no one harbored <italic>DYT6</italic>
or <italic>DYT1</italic>
mutations. Dystonia in <italic>ATM</italic>
families mimicked other forms of early-onset primary torsion dystonia, especially <italic>DYT6</italic>
, with prominent cervical, cranial, and brachial involvement. Mean age at onset was markedly younger in the patients with variant A-T (n = 12) than in patients with other dystonia (n = 23), (12 years vs 40 years, <italic>p</italic>
< 0.05). The patients with A-T were remarkable for the absence of notable cerebellar atrophy on MRI, lack of frank ataxia on examination, and absence of ocular telangiectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. Many also developed malignancies.</p>
</sec>
<sec><title>Conclusion:</title>
<p>Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia.</p>
</sec>
</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Bressman, S B" sort="Bressman, S B" uniqKey="Bressman S" first="S. B." last="Bressman">S. B. Bressman</name>
<name sortKey="Gatti, R" sort="Gatti, R" uniqKey="Gatti R" first="R." last="Gatti">R. Gatti</name>
<name sortKey="Hagenah, J" sort="Hagenah, J" uniqKey="Hagenah J" first="J." last="Hagenah">J. Hagenah</name>
<name sortKey="Hobson, D" sort="Hobson, D" uniqKey="Hobson D" first="D." last="Hobson">D. Hobson</name>
<name sortKey="Lefton, D" sort="Lefton, D" uniqKey="Lefton D" first="D." last="Lefton">D. Lefton</name>
<name sortKey="Nakamura, T" sort="Nakamura, T" uniqKey="Nakamura T" first="T." last="Nakamura">T. Nakamura</name>
<name sortKey="Okun, M S" sort="Okun, M S" uniqKey="Okun M" first="M. S." last="Okun">M. S. Okun</name>
<name sortKey="Ozelius, L J" sort="Ozelius, L J" uniqKey="Ozelius L" first="L. J." last="Ozelius">L. J. Ozelius</name>
<name sortKey="Pullman, S" sort="Pullman, S" uniqKey="Pullman S" first="S." last="Pullman">S. Pullman</name>
<name sortKey="Raymond, D" sort="Raymond, D" uniqKey="Raymond D" first="D." last="Raymond">D. Raymond</name>
<name sortKey="Sachdev, R" sort="Sachdev, R" uniqKey="Sachdev R" first="R." last="Sachdev">R. Sachdev</name>
<name sortKey="San Luciano, M" sort="San Luciano, M" uniqKey="San Luciano M" first="M." last="San Luciano">M. San Luciano</name>
<name sortKey="Saunders Pullman, R" sort="Saunders Pullman, R" uniqKey="Saunders Pullman R" first="R." last="Saunders-Pullman">R. Saunders-Pullman</name>
<name sortKey="Stanley, K" sort="Stanley, K" uniqKey="Stanley K" first="K." last="Stanley">K. Stanley</name>
<name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name>
<name sortKey="Uitti, R" sort="Uitti, R" uniqKey="Uitti R" first="R." last="Uitti">R. Uitti</name>
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