Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

Norbert Brüggemann; Johann Hagenah; Kathrin Reetz; Alexander Schmidt; Meike Kasten; Inga Buchmann; Susanne Eckerle; Manfred Bähre; Alexander Münchau; Ana Djarmati; Joyce van der Vegt; Hartwig Siebner; Ferdinand Binkofski; Alfredo Ramirez; Maria I Behrens; Christine Klein

doi:10.1001/archneurol.2010.281

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

Norbert Brüggemann, Johann Hagenah, Kathrin Reetz, Alexander Schmidt, Meike Kasten, Inga Buchmann, Susanne Eckerle, Manfred Bähre, Alexander Münchau, Ana Djarmati, Joyce van der Vegt, Hartwig Siebner, Ferdinand Binkofski, Alfredo Ramirez, Maria I Behrens, Christine Klein

Danish Research Centre for Magnetic Resonance

85 Citations (Scopus)

Abstract

To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers.

Original language	English
Journal	Archives of Neurology
Volume	67
Issue number	11
Pages (from-to)	1357-63
Number of pages	7
ISSN	0003-9942
DOIs	https://doi.org/10.1001/archneurol.2010.281
Publication status	Published - 2010

Keywords

Aged
Brain
Brain Mapping
Color Perception
Discrimination (Psychology)
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Nerve Degeneration
Olfactory Perception
Parkinsonian Disorders
Pedigree
Phenotype
Prospective Studies
Proton-Translocating ATPases

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10.1001/archneurol.2010.281

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Brüggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bähre, M., Münchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., & Klein, C. (2010). Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Archives of Neurology, 67(11), 1357-63. https://doi.org/10.1001/archneurol.2010.281

Brüggemann, N, Hagenah, J, Reetz, K, Schmidt, A, Kasten, M, Buchmann, I, Eckerle, S, Bähre, M, Münchau, A, Djarmati, A, van der Vegt, J, Siebner, H, Binkofski, F, Ramirez, A, Behrens, MI & Klein, C 2010, 'Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype', Archives of Neurology, vol. 67, no. 11, pp. 1357-63. https://doi.org/10.1001/archneurol.2010.281

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title = "Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype",

abstract = "To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers.",

keywords = "Aged, Brain, Brain Mapping, Color Perception, Discrimination (Psychology), Female, Genetic Predisposition to Disease, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Nerve Degeneration, Olfactory Perception, Parkinsonian Disorders, Pedigree, Phenotype, Prospective Studies, Proton-Translocating ATPases",

author = "Norbert Br{\"u}ggemann and Johann Hagenah and Kathrin Reetz and Alexander Schmidt and Meike Kasten and Inga Buchmann and Susanne Eckerle and Manfred B{\"a}hre and Alexander M{\"u}nchau and Ana Djarmati and \{van der Vegt\}, Joyce and Hartwig Siebner and Ferdinand Binkofski and Alfredo Ramirez and Behrens, \{Maria I\} and Christine Klein",

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doi = "10.1001/archneurol.2010.281",

language = "English",

volume = "67",

pages = "1357--63",

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T1 - Recessively inherited parkinsonism

T2 - effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

AU - Brüggemann, Norbert

AU - Hagenah, Johann

AU - Reetz, Kathrin

AU - Schmidt, Alexander

AU - Kasten, Meike

AU - Buchmann, Inga

AU - Eckerle, Susanne

AU - Bähre, Manfred

AU - Münchau, Alexander

AU - Djarmati, Ana

AU - van der Vegt, Joyce

AU - Siebner, Hartwig

AU - Binkofski, Ferdinand

AU - Ramirez, Alfredo

AU - Behrens, Maria I

AU - Klein, Christine

PY - 2010

Y1 - 2010

N2 - To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers.

AB - To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers.

KW - Aged

KW - Brain

KW - Brain Mapping

KW - Color Perception

KW - Discrimination (Psychology)

KW - Female

KW - Genetic Predisposition to Disease

KW - Heterozygote

KW - Humans

KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Mutation

KW - Nerve Degeneration

KW - Olfactory Perception

KW - Parkinsonian Disorders

KW - Pedigree

KW - Phenotype

KW - Prospective Studies

KW - Proton-Translocating ATPases

UR - https://www.scopus.com/pages/publications/77954957723

U2 - 10.1001/archneurol.2010.281

DO - 10.1001/archneurol.2010.281

M3 - Journal article

C2 - 21060012

SN - 0003-9942

VL - 67

SP - 1357

EP - 1363

JO - Archives of Neurology

JF - Archives of Neurology

IS - 11

ER -

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

Abstract

Keywords

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