Chorea‐acanthocytosis: Report of two Brazilian cases
Identifieur interne : 002947 ( Main/Exploration ); précédent : 002946; suivant : 002948Chorea‐acanthocytosis: Report of two Brazilian cases
Auteurs : Guilherme Riccioppo Rodrigues [Brésil] ; Ruth H. Walker ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Wilson Marques Jr [Brésil] ; Vitor Tumas [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- MESH :
- chemical , metabolism : Vesicular Transport Proteins.
- geographic : Brazil.
- complications : Chorea.
- methods : Magnetic Resonance Imaging.
- pathology : Acanthocytes, Chorea.
- Adult, Female, Humans, Male.
Abstract
Chorea‐acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22305
Affiliations:
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This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Brésil</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement></list><tree><noCountry><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></noCountry><country name="Brésil"><noRegion><name sortKey="Rodrigues, Guilherme Riccioppo" sort="Rodrigues, Guilherme Riccioppo" uniqKey="Rodrigues G" first="Guilherme Riccioppo" last="Rodrigues">Guilherme Riccioppo Rodrigues</name></noRegion><name sortKey="Marques Jr, Wilson" sort="Marques Jr, Wilson" uniqKey="Marques Jr W" first="Wilson" last="Marques Jr">Wilson Marques Jr</name><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name></region><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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