Behrens, Maria I., Brueggemann, Norbert, Chana, Pedro ORCID: 0000-0001-9946-3299, Venegas, Pablo, Kaegi, Marianne, Parrao, Teresa, Orellana, Patricia, Garrido, Cristian, Rojas, Cecilia V., Hauke, Jan, Hahnen, Eric, Gonzalez, Rafael, Seleme, Nicolas, Fernandez, Veronica, Schmidt, Alexander, Binkofski, Ferdinand ORCID: 0000-0002-6750-943X, Koempf, Detlef, Kubisch, Christian ORCID: 0000-0003-4220-0978, Hagenah, Johann, Klein, Christine and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2010). Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations. Mov. Disord., 25 (12). S. 1929 - 1938. HOBOKEN: WILEY. ISSN 1531-8257

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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, 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 similar to 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. (C) 2010 Movement Disorder Society

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Behrens, Maria I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brueggemann, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chana, PedroUNSPECIFIEDorcid.org/0000-0001-9946-3299UNSPECIFIED
Venegas, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaegi, MarianneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parrao, TeresaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orellana, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garrido, CristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rojas, Cecilia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez, RafaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seleme, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fernandez, VeronicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Binkofski, FerdinandUNSPECIFIEDorcid.org/0000-0002-6750-943XUNSPECIFIED
Koempf, DetlefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kubisch, ChristianUNSPECIFIEDorcid.org/0000-0003-4220-0978UNSPECIFIED
Hagenah, JohannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klein, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramirez, AlfredoUNSPECIFIEDorcid.org/0000-0003-4991-763XUNSPECIFIED
URN: urn:nbn:de:hbz:38-496578
DOI: 10.1002/mds.22996
Journal or Publication Title: Mov. Disord.
Volume: 25
Number: 12
Page Range: S. 1929 - 1938
Date: 2010
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1531-8257
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HETEROZYGOUS PINK1 MUTATIONS; EARLY-ONSET PARKINSONISM; PYRAMIDAL DEGENERATION; JUVENILE PARKINSONISM; DISEASE; DEMENTIA; DJ-1Multiple languages
Clinical NeurologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49657

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