A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
Identifieur interne : 000320 ( Main/Exploration ); précédent : 000319; suivant : 000321A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
Auteurs : Michelle K. Demos [Canada] ; Vincenzo Macri [Canada] ; Kevin Farrell [Canada] ; Tanya N. Nelson [Canada] ; Kristine Chapman [Canada] ; Eric Accili [Canada] ; Linlea Armstrong [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-04-15.
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Abstract
Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage‐gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dysfunction, cerebellar atrophy, and cognitive delay. All affected family members have myokymia and epilepsy, but only one individual has episodes of vertigo. Additional features include postural abnormalities, episodic stiffness and weakness. A novel KCNA1 mutation (c.1222G>T) which replaces a highly conserved valine with leucine at position 408 (p.Val408Leu) was identified in affected family members, and was found to augment the ability of the channel to inactivate. Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22467
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Demos</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatric Neurology, British Columbia's Children's Hospital, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation><affiliation></affiliation></author><author><name sortKey="Macri, Vincenzo" sort="Macri, Vincenzo" uniqKey="Macri V" first="Vincenzo" last="Macri">Vincenzo Macri</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Farrell, Kevin" sort="Farrell, Kevin" uniqKey="Farrell K" first="Kevin" last="Farrell">Kevin Farrell</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatric Neurology, British Columbia's Children's Hospital, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Nelson, Tanya N" sort="Nelson, Tanya N" uniqKey="Nelson T" first="Tanya N." last="Nelson">Tanya N. 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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-04-15">2009-04-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="778">778</biblScope><biblScope unit="page" to="782">782</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">286038FB3A35BFBDC532CA6B084F8C7A5337FD1A</idno><idno type="DOI">10.1002/mds.22467</idno><idno type="ArticleID">MDS22467</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EA1</term><term>KCNA1</term><term>cerebellar atrophy</term><term>cognitive dysfunction</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage‐gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dysfunction, cerebellar atrophy, and cognitive delay. All affected family members have myokymia and epilepsy, but only one individual has episodes of vertigo. Additional features include postural abnormalities, episodic stiffness and weakness. A novel KCNA1 mutation (c.1222G>T) which replaces a highly conserved valine with leucine at position 408 (p.Val408Leu) was identified in affected family members, and was found to augment the ability of the channel to inactivate. Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Demos, Michelle K" sort="Demos, Michelle K" uniqKey="Demos M" first="Michelle K." last="Demos">Michelle K. 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