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.
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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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NO : | PASCAL 10-0446305 INIST |
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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 |
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<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>
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<author><name sortKey="Orellana, Patricia" sort="Orellana, Patricia" uniqKey="Orellana P" first="Patricia" last="Orellana">Patricia Orellana</name>
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<author><name sortKey="Fernandez, Ver Nica" sort="Fernandez, Ver Nica" uniqKey="Fernandez V" first="Ver Nica" last="Fernandez">Ver Nica Fernandez</name>
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<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
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<sZ>16 aut.</sZ>
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<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<author><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name>
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<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>
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<sZ>2 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
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<author><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name>
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<s3>DEU</s3>
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<sZ>11 aut.</sZ>
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<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>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<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>
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<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
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<s3>DEU</s3>
<sZ>2 aut.</sZ>
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<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
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<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>
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<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>
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<sZ>4 aut.</sZ>
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<sZ>14 aut.</sZ>
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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>
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<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>
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