Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?
Identifieur interne : 005B55 ( Main/Merge ); précédent : 005B54; suivant : 005B56Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?
Auteurs : Mikko Kuoppam Ki [Royaume-Uni] ; Paula Giunti [Royaume-Uni] ; Niall Quinn [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-02.
English descriptors
- KwdEn :
- ADCA, Adult, Brain (pathology), Cerebellar Ataxia (diagnosis), Diagnosis, Differential, Disease Progression, Female, Genotype, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Phenotype, SCA, Severity of Illness Index, Spinocerebellar Ataxias (diagnosis), Torticollis (diagnosis), Tremor (diagnosis), cervical dystonia, spinocerebellar ataxia, tremor.
- MESH :
- diagnosis : Cerebellar Ataxia, Spinocerebellar Ataxias, Torticollis, Tremor.
- pathology : Brain.
- Adult, Diagnosis, Differential, Disease Progression, Female, Genotype, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Phenotype, Severity of Illness Index.
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 was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first‐degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first‐degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young‐onset spinocerebellar ataxia. © Movement Disorder Society
Url:
DOI: 10.1002/mds.10308
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<front><div type="abstract" xml:lang="en">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 was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first‐degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first‐degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young‐onset spinocerebellar ataxia. © Movement Disorder Society</div>
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<front><div type="abstract" xml:lang="en">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 was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first‐degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first‐degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young‐onset spinocerebellar ataxia. © Movement Disorder Society</div>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?</title>
<author><name sortKey="Kuoppam Ki, Mikko" sort="Kuoppam Ki, Mikko" uniqKey="Kuoppam Ki M" first="Mikko" last="Kuoppam Ki">Mikko Kuoppam Ki</name>
<affiliation wicri:level="3"><nlm:affiliation>National Hospital for Neurology and Neurosurgery, Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Hospital for Neurology and Neurosurgery, Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giunti, Paula" sort="Giunti, Paula" uniqKey="Giunti P" first="Paula" last="Giunti">Paula Giunti</name>
</author>
<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2003" type="published">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Brain (pathology)</term>
<term>Cerebellar Ataxia (diagnosis)</term>
<term>Diagnosis, Differential</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Severity of Illness Index</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Torticollis (diagnosis)</term>
<term>Tremor (diagnosis)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cerebellar Ataxia</term>
<term>Spinocerebellar Ataxias</term>
<term>Torticollis</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Diagnosis, Differential</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Severity of Illness Index</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first-degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first-degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young-onset spinocerebellar ataxia.</div>
</front>
</TEI>
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