Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations
Identifieur interne : 002740 ( Main/Merge ); précédent : 002739; suivant : 002741Clinical 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 Gonzalez [Chili] ; Nicolas Seleme [Chili] ; Ver Nica Fernandez [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.
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- Pascal (Inist)
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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, nemoimaging, 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.
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Behrens</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centro de Estudios del Movimiento</s1><s2>Santiago</s2><s3>CHL</s3><sZ>3 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Centro de Estudios del Movimiento</wicri:noRegion></affiliation></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="K Gi, Marianne" sort="K Gi, Marianne" uniqKey="K Gi M" first="Marianne" last="K Gi">Marianne K Gi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Departamento de Radiología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Garrido, Cristian" sort="Garrido, Cristian" uniqKey="Garrido C" first="Cristian" last="Garrido">Cristian Garrido</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Departamento de Radiología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Rojas, Cecilia V" sort="Rojas, Cecilia V" uniqKey="Rojas C" first="Cecilia V." last="Rojas">Cecilia V. Rojas</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute Nutrición y Tecnología Alimentos, Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>9 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of 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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="Gonzalez">Rafael Gonzalez</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="08"><s1>Departamento de Oftalmología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>13 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Fernandez, Ver Nica" sort="Fernandez, Ver Nica" uniqKey="Fernandez V" first="Ver Nica" last="Fernandez">Ver Nica Fernandez</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departamento de Ciencias Neurológicas Oriente, Servicio Neuro-Oftalmología, Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>14 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of 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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0446305</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0446305 INIST</idno><idno type="RBID">Pascal:10-0446305</idno><idno type="wicri:Area/PascalFrancis/Corpus">000924</idno><idno type="wicri:Area/PascalFrancis/Curation">002395</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000B53</idno><idno type="wicri:doubleKey">0885-3185:2010:Behrens M:clinical:spectrum:of</idno><idno type="wicri:Area/Main/Merge">002740</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations</title><author><name sortKey="Behrens, Maria I" sort="Behrens, Maria I" uniqKey="Behrens M" first="Maria I." last="Behrens">Maria I. Behrens</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Centro de Estudios del Movimiento</s1><s2>Santiago</s2><s3>CHL</s3><sZ>3 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Centro de Estudios del Movimiento</wicri:noRegion></affiliation></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="K Gi, Marianne" sort="K Gi, Marianne" uniqKey="K Gi M" first="Marianne" last="K Gi">Marianne K Gi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clínica Alemana de Santiago</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Clínica Alemana de Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Departamento de Radiología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Garrido, Cristian" sort="Garrido, Cristian" uniqKey="Garrido C" first="Cristian" last="Garrido">Cristian Garrido</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Departamento de Radiología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Rojas, Cecilia V" sort="Rojas, Cecilia V" uniqKey="Rojas C" first="Cecilia V." last="Rojas">Cecilia V. Rojas</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute Nutrición y Tecnología Alimentos, Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>9 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of 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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="Gonzalez">Rafael Gonzalez</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="08"><s1>Departamento de Oftalmología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>13 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Fernandez, Ver Nica" sort="Fernandez, Ver Nica" uniqKey="Fernandez V" first="Ver Nica" last="Fernandez">Ver Nica Fernandez</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departamento de Ciencias Neurológicas Oriente, Servicio Neuro-Oftalmología, Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>14 aut.</sZ></inist:fA14><country>Chili</country><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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of 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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</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"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Methylation</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Mutation</term><term>Méthylation</term></keywords></textClass></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, nemoimaging, 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<sup>*</sup> 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<sup>*</sup>-hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation.</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="Fernandez">Ver Nica Fernandez</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="Gonzalez">Rafael Gonzalez</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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