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Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
Open accessAbstract
Seven autosomal recessive genes associated with juvenile and young‐onset Levodopa‐responsive parkinsonism have been identified. Mutations in PRKN, DJ‐1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of dementia. On the other hand, Kufor‐Rakeb syndrome has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, myoclonic jerks, pyramidal signs, and cognitive impairment. Neurodegeneration with brain iron accumulation type I (Hallervorden‐Spatz syndrome) due to mutations in PANK2 gene may share similar features with Kufor‐Rakeb syndrome. Mutations in three other genes, PLA2G6 (PARK14), FBXO7 (PARK15), and Spatacsin (SPG11) also produce clinical similar phenotypes in that they presented with rapidly progressive parkinsonism, initially responsive to Levodopa treatment but later, developed additional features including cognitive decline and loss of Levodopa responsiveness. Here, using homozygosity mapping and sequence analysis in families with complex parkinsonisms, we identified genetic defects in the ATP13A2 (1 family), PLA2G6 (1 family) FBXO7 (2 families), and SPG11 (1 family). The genetic heterogeneity was surprising given their initially common clinical features. On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism. The ATP13A2 and PLA2G6 cases were more seriously disabled with additional swallowing problems, dystonic features, severe in some, and usually pyramidal involvement including pyramidal weakness. These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido‐pyramidal syndrome. © 2010 Movement Disorder Society.
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Cites
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
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Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
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Self-citationClinical and genetic delineation of neurodegeneration with brain iron accumulation
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FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
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The role of ATP13A2 in Parkinson’s disease: clinical phenotypes and molecular mechanisms
Park, J., Blair, N. F., & Sue, C. M. (2015) · Movement Disorders · doi:10.1002/mds.26243 · Cited by 173
Schröder, N., Figueiredo, L. S., & de Lima, M. N. M. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-121996 · Cited by 113
Lamari, F., Mochel, F., Sedel, F., & Saudubray, J. M. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9509-7 · Cited by 104
Sung, Y. J., de las Fuentes, L., Winkler, T. W., Chasman, D. I., Bentley, A. R., Kraja, A. T., Ntalla, I., Warren, H. R., Guo, X., Schwander, K., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz070 · Cited by 43
Metadata
- Authors
- Paisán‐Ruiz, C., Guevara, R., Federoff, M., Hanagasi, H., Sina, F., Elahi, E., Schneider, S. A., Schwingenschuh, P., Bajaj, N., Emre, M., Singleton, A. B., Hardy, J., Bhatia, K. P., Brandner, S., Lees, A. J., & Houlden, H.
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2010-09-08
- Volume
- 25
- Issue
- 12
- Pages
- 1791-1800
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W2097132970
- Cited by
- 256
- References
- 33
- FWCI
- 13.02
- Type
- journal article
- Language
- en
- Open access
- green
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- Paisán‐Ruiz, C., Guevara, R., Federoff, M., Hanagasi, H., Sina, F., Elahi, E., Schneider, S. A., Schwingenschuh, P., Bajaj, N., Emre, M., Singleton, A. B., Hardy, J., Bhatia, K. P., Brandner, S., Lees, A. J., & Houlden, H. (2010). Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Movement Disorders. https://doi.org/10.1002/mds.23221
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