Clinical spectrum of Kufor‐Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
Identifieur interne : 000776 ( Main/Exploration ); précédent : 000775; suivant : 000777Clinical spectrum of Kufor‐Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
Auteurs : Maria I. Behrens [Chili] ; Norbert Brüggemann [Allemagne] ; Pedro Chana [Chili] ; Pablo Venegas [Chili] ; Marianne K Gi [Chili] ; Teresa Parrao [Chili] ; Patricia Orellana [Chili] ; Cristian Garrido [Chili] ; Cecilia V. Rojas [Chili] ; Jan Hauke [Allemagne] ; Eric Hahnen [Allemagne] ; Rafael González [Chili] ; Nicolas Seleme [Chili] ; Ver Nica Fernández [Chili] ; Alexander Schmidt [Allemagne] ; Ferdinand Binkofski [Allemagne] ; Detlef Kömpf [Allemagne] ; Christian Kubisch [Allemagne] ; Johann Hagenah [Allemagne] ; Christine Klein [Allemagne] ; Alfredo Ramirez [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
English descriptors
Abstract
We report the clinical features of the original Chilean family with Kufor‐Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile‐onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and facial‐faucial‐finger minimyoclonus. Neurological and neuropsychological examination during a 10‐year period, videotaping, neuroimaging, and measurement of DNA methylation of the ATP13A2 promoter region were performed. The youngest 5 of 17 children of nonconsanguineous parents, carrying compound‐heterozygous ATP13A2 mutations, had normal development until ages ∼10 to 12 years, when school performance deteriorated and slowness, rigidity, and frequent falls developed. Examination revealed bradykinesia, subtle postural/action tremor, cogwheel rigidity, spasticity, upward gaze palsy, smooth pursuit with saccadic intrusions, and dementia. Additional signs included facial‐faucial‐finger minimyoclonus, absent postural reflexes, visual/auditory hallucinations, and insomnia. Levodopa response could not be fully judged in this family. T2* magnetic resonance imaging sequences revealed marked diffuse hypointensity of the caudate (head and body) and lenticular nucleus bilaterally. Disease progression was slow including epilepsy, cachexia, and anarthria. Four affected members died after 28.5 ± 5.5 (mean ± SD) years of disease. Two heterozygous carriers, the mother and eldest sibling, showed jerky perioral muscle contractions and clumsiness of hand movements. There was no significant correlation between DNA methylation of the ATP13A2 promoter region and disease progression. The marked caudate and lenticular nucleus T2*‐hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.22996
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Rojas</name><affiliation wicri:level="1"><country xml:lang="fr">Chili</country><wicri:regionArea>Instituto Nutrición y Tecnología Alimentos, Universidad de Chile, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="González">Rafael González</name><affiliation wicri:level="1"><country xml:lang="fr">Chili</country><wicri:regionArea>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Seleme, Nicolas" sort="Seleme, Nicolas" uniqKey="Seleme N" first="Nicolas" last="Seleme">Nicolas Seleme</name><affiliation wicri:level="1"><country xml:lang="fr">Chili</country><wicri:regionArea>Departamento de Oftalmología, Hospital Clínico Universidad de Chile, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Fernandez, Ver Nica" sort="Fernandez, Ver Nica" uniqKey="Fernandez V" first="Ver Nica" last="Fernández">Ver Nica Fernández</name><affiliation wicri:level="1"><country xml:lang="fr">Chili</country><wicri:regionArea>Departamento de Ciencias Neurológicas Oriente, Servicio Neuro‐Oftalmología, Universidad de Chile, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kompf, Detlef" sort="Kompf, Detlef" uniqKey="Kompf D" first="Detlef" last="Kömpf">Detlef Kömpf</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Luebeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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="2010-09-15">2010-09-15</date><biblScope unit="volume">25</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1929">1929</biblScope><biblScope unit="page" to="1937">1937</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3750C8F32896C3226E71DA44843798B6E1366124</idno><idno type="DOI">10.1002/mds.22996</idno><idno type="ArticleID">MDS22996</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2 mutations</term><term>DNA methylation</term><term>juvenile Parkinsonism</term><term>minimyoclonus</term><term>saccadic pursuit</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the clinical features of the original Chilean family with Kufor‐Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile‐onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and facial‐faucial‐finger minimyoclonus. Neurological and neuropsychological examination during a 10‐year period, videotaping, neuroimaging, and measurement of DNA methylation of the ATP13A2 promoter region were performed. The youngest 5 of 17 children of nonconsanguineous parents, carrying compound‐heterozygous ATP13A2 mutations, had normal development until ages ∼10 to 12 years, when school performance deteriorated and slowness, rigidity, and frequent falls developed. Examination revealed bradykinesia, subtle postural/action tremor, cogwheel rigidity, spasticity, upward gaze palsy, smooth pursuit with saccadic intrusions, and dementia. Additional signs included facial‐faucial‐finger minimyoclonus, absent postural reflexes, visual/auditory hallucinations, and insomnia. Levodopa response could not be fully judged in this family. T2* magnetic resonance imaging sequences revealed marked diffuse hypointensity of the caudate (head and body) and lenticular nucleus bilaterally. Disease progression was slow including epilepsy, cachexia, and anarthria. Four affected members died after 28.5 ± 5.5 (mean ± SD) years of disease. Two heterozygous carriers, the mother and eldest sibling, showed jerky perioral muscle contractions and clumsiness of hand movements. There was no significant correlation between DNA methylation of the ATP13A2 promoter region and disease progression. The marked caudate and lenticular nucleus T2*‐hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation. © 2010 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Chili</li></country></list><tree><country name="Chili"><noRegion><name sortKey="Behrens, Maria I" sort="Behrens, Maria I" uniqKey="Behrens M" first="Maria I." last="Behrens">Maria I. Behrens</name></noRegion><name sortKey="Behrens, Maria I" sort="Behrens, Maria I" uniqKey="Behrens M" first="Maria I." last="Behrens">Maria I. Behrens</name><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><name sortKey="Fernandez, Ver Nica" sort="Fernandez, Ver Nica" uniqKey="Fernandez V" first="Ver Nica" last="Fernández">Ver Nica Fernández</name><name sortKey="Garrido, Cristian" sort="Garrido, Cristian" uniqKey="Garrido C" first="Cristian" last="Garrido">Cristian Garrido</name><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="González">Rafael González</name><name sortKey="K Gi, Marianne" sort="K Gi, Marianne" uniqKey="K Gi M" first="Marianne" last="K Gi">Marianne K Gi</name><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><name sortKey="Rojas, Cecilia V" sort="Rojas, Cecilia V" uniqKey="Rojas C" first="Cecilia V." last="Rojas">Cecilia V. Rojas</name><name sortKey="Seleme, Nicolas" sort="Seleme, Nicolas" uniqKey="Seleme N" first="Nicolas" last="Seleme">Nicolas Seleme</name><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name></country><country name="Allemagne"><noRegion><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name></noRegion><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Kompf, Detlef" sort="Kompf, Detlef" uniqKey="Kompf D" first="Detlef" last="Kömpf">Detlef Kömpf</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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