Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations
Identifieur interne : 000924 ( PascalFrancis/Corpus ); précédent : 000923; suivant : 000925Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations
Auteurs : Maria I. Behrens ; Norbert Brüggemann ; Pedro Chana ; Pablo Venegas ; Marianne K Gi ; Teresa Parrao ; Patricia Orellana ; Cristian Garrido ; Cecilia V. Rojas ; Jan Hauke ; Eric Hahnen ; Rafael Gonzalez ; Nicolas Seleme ; Ver Nica Fernandez ; Alexander Schmidt ; Ferdinand Binkofski ; Detlef Kömpf ; Christian Kubisch ; Johann Hagenah ; Christine Klein ; Alfredo RamirezSource :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
| pA |
|
|---|
Format Inist (serveur)
| NO : | PASCAL 10-0446305 INIST |
|---|---|
| ET : | Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations |
| AU : | BEHRENS (Maria I.); BRÜGGEMANN (Norbert); CHANA (Pedro); VENEGAS (Pablo); KÄGI (Marianne); PARRAO (Teresa); ORELLANA (Patricia); GARRIDO (Cristian); ROJAS (Cecilia V.); HAUKE (Jan); HAHNEN (Eric); GONZALEZ (Rafael); SELEME (Nicolas); FERNANDEZ (Verónica); SCHMIDT (Alexander); BINKOFSKI (Ferdinand); KÖMPF (Detlef); KUBISCH (Christian); HAGENAH (Johann); KLEIN (Christine); RAMIREZ (Alfredo) |
| AF : | Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile/Santiago/Chili (1 aut., 4 aut., 5 aut., 6 aut., 12 aut.); Clínica Alemana de Santiago/Santiago/Chili (1 aut., 3 aut., 6 aut.); Department of Neurology, University of Luebeck/Lübeck/Allemagne (2 aut., 15 aut., 16 aut., 17 aut., 19 aut., 20 aut., 21 aut.); Centro de Estudios del Movimiento/Santiago/Chili (3 aut.); Departamento de Radiología, Hospital Clínico Universidad de Chile/Santiago/Chili (7 aut., 8 aut.); Institute Nutrición y Tecnología Alimentos, Universidad de Chile/Santiago/Chili (9 aut.); Institute of Human Genetics, University of Cologne/Cologne/Allemagne (10 aut., 11 aut., 18 aut.); Departamento de Oftalmología, Hospital Clínico Universidad de Chile/Santiago/Chili (13 aut.); Departamento de Ciencias Neurológicas Oriente, Servicio Neuro-Oftalmología, Universidad de Chile/Santiago/Chili (14 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 12; Pp. 1929-1937; Bibl. 24 ref. |
| LA : | Anglais |
| EA : | 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. |
| CC : | 002B17; 002B17H |
| FD : | Parkinsonisme; Pathologie du système nerveux; Mutation; Méthylation |
| ED : | Parkinsonism; Nervous system diseases; Mutation; Methylation |
| SD : | Parkinson síndrome; Sistema nervioso patología; Mutación; Metilación |
| LO : | INIST-20953.354000194841700220 |
| ID : | 10-0446305 |
Links to Exploration step
Pascal:10-0446305Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><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></affiliation></author><author><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><affiliation><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></affiliation><affiliation><inist:fA14 i1="04"><s1>Centro de Estudios del Movimiento</s1><s2>Santiago</s2><s3>CHL</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><affiliation><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name><affiliation><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></affiliation></author><author><name sortKey="Garrido, Cristian" sort="Garrido, Cristian" uniqKey="Garrido C" first="Cristian" last="Garrido">Cristian Garrido</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><affiliation><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></affiliation></author><author><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><affiliation><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></affiliation></author><author><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="Gonzalez">Rafael Gonzalez</name><affiliation><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></affiliation></author><author><name sortKey="Seleme, Nicolas" sort="Seleme, Nicolas" uniqKey="Seleme N" first="Nicolas" last="Seleme">Nicolas Seleme</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation><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></affiliation></author><author><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name><affiliation><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></affiliation></author><author><name sortKey="Kompf, Detlef" sort="Kompf, Detlef" uniqKey="Kompf D" first="Detlef" last="Kömpf">Detlef Kömpf</name><affiliation><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></affiliation></author><author><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><affiliation><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></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><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></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><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></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation><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></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></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><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><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></affiliation></author><author><name sortKey="Chana, Pedro" sort="Chana, Pedro" uniqKey="Chana P" first="Pedro" last="Chana">Pedro Chana</name><affiliation><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></affiliation><affiliation><inist:fA14 i1="04"><s1>Centro de Estudios del Movimiento</s1><s2>Santiago</s2><s3>CHL</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Venegas, Pablo" sort="Venegas, Pablo" uniqKey="Venegas P" first="Pablo" last="Venegas">Pablo Venegas</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Parrao, Teresa" sort="Parrao, Teresa" uniqKey="Parrao T" first="Teresa" last="Parrao">Teresa Parrao</name><affiliation><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name><affiliation><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></affiliation></author><author><name sortKey="Garrido, Cristian" sort="Garrido, Cristian" uniqKey="Garrido C" first="Cristian" last="Garrido">Cristian Garrido</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><affiliation><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></affiliation></author><author><name sortKey="Hahnen, Eric" sort="Hahnen, Eric" uniqKey="Hahnen E" first="Eric" last="Hahnen">Eric Hahnen</name><affiliation><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></affiliation></author><author><name sortKey="Gonzalez, Rafael" sort="Gonzalez, Rafael" uniqKey="Gonzalez R" first="Rafael" last="Gonzalez">Rafael Gonzalez</name><affiliation><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></affiliation></author><author><name sortKey="Seleme, Nicolas" sort="Seleme, Nicolas" uniqKey="Seleme N" first="Nicolas" last="Seleme">Nicolas Seleme</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation><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></affiliation></author><author><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name><affiliation><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></affiliation></author><author><name sortKey="Kompf, Detlef" sort="Kompf, Detlef" uniqKey="Kompf D" first="Detlef" last="Kömpf">Detlef Kömpf</name><affiliation><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></affiliation></author><author><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><affiliation><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></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><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></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><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></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation><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></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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>12</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations</s1></fA08><fA11 i1="01" i2="1"><s1>BEHRENS (Maria I.)</s1></fA11><fA11 i1="02" i2="1"><s1>BRÜGGEMANN (Norbert)</s1></fA11><fA11 i1="03" i2="1"><s1>CHANA (Pedro)</s1></fA11><fA11 i1="04" i2="1"><s1>VENEGAS (Pablo)</s1></fA11><fA11 i1="05" i2="1"><s1>KÄGI (Marianne)</s1></fA11><fA11 i1="06" i2="1"><s1>PARRAO (Teresa)</s1></fA11><fA11 i1="07" i2="1"><s1>ORELLANA (Patricia)</s1></fA11><fA11 i1="08" i2="1"><s1>GARRIDO (Cristian)</s1></fA11><fA11 i1="09" i2="1"><s1>ROJAS (Cecilia V.)</s1></fA11><fA11 i1="10" i2="1"><s1>HAUKE (Jan)</s1></fA11><fA11 i1="11" i2="1"><s1>HAHNEN (Eric)</s1></fA11><fA11 i1="12" i2="1"><s1>GONZALEZ (Rafael)</s1></fA11><fA11 i1="13" i2="1"><s1>SELEME (Nicolas)</s1></fA11><fA11 i1="14" i2="1"><s1>FERNANDEZ (Verónica)</s1></fA11><fA11 i1="15" i2="1"><s1>SCHMIDT (Alexander)</s1></fA11><fA11 i1="16" i2="1"><s1>BINKOFSKI (Ferdinand)</s1></fA11><fA11 i1="17" i2="1"><s1>KÖMPF (Detlef)</s1></fA11><fA11 i1="18" i2="1"><s1>KUBISCH (Christian)</s1></fA11><fA11 i1="19" i2="1"><s1>HAGENAH (Johann)</s1></fA11><fA11 i1="20" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="21" i2="1"><s1>RAMIREZ (Alfredo)</s1></fA11><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></fA14><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></fA14><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></fA14><fA14 i1="04"><s1>Centro de Estudios del Movimiento</s1><s2>Santiago</s2><s3>CHL</s3><sZ>3 aut.</sZ></fA14><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></fA14><fA14 i1="06"><s1>Institute Nutrición y Tecnología Alimentos, Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>9 aut.</sZ></fA14><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></fA14><fA14 i1="08"><s1>Departamento de Oftalmología, Hospital Clínico Universidad de Chile</s1><s2>Santiago</s2><s3>CHL</s3><sZ>13 aut.</sZ></fA14><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></fA14><fA20><s1>1929-1937</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000194841700220</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>24 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0446305</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Méthylation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Methylation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Metilación</s0><s5>10</s5></fC03><fN21><s1>291</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 10-0446305 INIST</NO><ET>Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations</ET><AU>BEHRENS (Maria I.); BRÜGGEMANN (Norbert); CHANA (Pedro); VENEGAS (Pablo); KÄGI (Marianne); PARRAO (Teresa); ORELLANA (Patricia); GARRIDO (Cristian); ROJAS (Cecilia V.); HAUKE (Jan); HAHNEN (Eric); GONZALEZ (Rafael); SELEME (Nicolas); FERNANDEZ (Verónica); SCHMIDT (Alexander); BINKOFSKI (Ferdinand); KÖMPF (Detlef); KUBISCH (Christian); HAGENAH (Johann); KLEIN (Christine); RAMIREZ (Alfredo)</AU><AF>Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile/Santiago/Chili (1 aut., 4 aut., 5 aut., 6 aut., 12 aut.); Clínica Alemana de Santiago/Santiago/Chili (1 aut., 3 aut., 6 aut.); Department of Neurology, University of Luebeck/Lübeck/Allemagne (2 aut., 15 aut., 16 aut., 17 aut., 19 aut., 20 aut., 21 aut.); Centro de Estudios del Movimiento/Santiago/Chili (3 aut.); Departamento de Radiología, Hospital Clínico Universidad de Chile/Santiago/Chili (7 aut., 8 aut.); Institute Nutrición y Tecnología Alimentos, Universidad de Chile/Santiago/Chili (9 aut.); Institute of Human Genetics, University of Cologne/Cologne/Allemagne (10 aut., 11 aut., 18 aut.); Departamento de Oftalmología, Hospital Clínico Universidad de Chile/Santiago/Chili (13 aut.); Departamento de Ciencias Neurológicas Oriente, Servicio Neuro-Oftalmología, Universidad de Chile/Santiago/Chili (14 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 12; Pp. 1929-1937; Bibl. 24 ref.</SO><LA>Anglais</LA><EA>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.</EA><CC>002B17; 002B17H</CC><FD>Parkinsonisme; Pathologie du système nerveux; Mutation; Méthylation</FD><ED>Parkinsonism; Nervous system diseases; Mutation; Methylation</ED><SD>Parkinson síndrome; Sistema nervioso patología; Mutación; Metilación</SD><LO>INIST-20953.354000194841700220</LO><ID>10-0446305</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000924 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 000924 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PascalFrancis
|étape= Corpus
|type= RBID
|clé= Pascal:10-0446305
|texte= Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations
}}
| This area was generated with Dilib version V0.6.23. |  |