MovDisordV3, Main, Exploration, bibRecord, 003F33

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

Identifieur interne : 003F33 ( Main/Exploration ); précédent : 003F32; suivant : 003F34

Slowly 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.

RBID : ISTEX:30FA0597E2A89ED3485DBCAE578EB017DE4105CA

Descripteurs français

Pascal (Inist)
- Ataxie, Cervelet, Etude cas, Forme clinique, Homme, Hérédodégénérescence spinocérébelleuse, Progressif, Torticolis spasmodique.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- ADCA, Adult, Ataxia, Brain (pathology), Case study, Cerebellar Ataxia (diagnosis), Cerebellum, Clinical form, Diagnosis, Differential, Disease Progression, Female, Genotype, Human, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Phenotype, Progressive, SCA, Severity of Illness Index, Spasmodic torticollis, Spinocerebellar Ataxias (diagnosis), Spinocerebellar heredodegeneration, 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:

https://api.istex.fr/document/30FA0597E2A89ED3485DBCAE578EB017DE4105CA/fulltext/pdf

DOI: 10.1002/mds.10308

Affiliations:

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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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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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