Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Fong, CY; Rolfs, A; Schwarzbraun, T; Klein, C; O'Callaghan, FJ.
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol. 2011; 15(3):271-275
Doi: 10.1016/j.ejpn.2011.01.001
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Schwarzbraun Thomas
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- Abstract:
- We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. The clinical phenotype of our case is more severe when compared with other published reports of symptomatic heterozygous ATP13A2 mutation carriers. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Frameshift Mutation - genetics
- Genetic Predisposition to Disease - genetics
- Heterozygote -
- Humans -
- Male -
- Parkinsonian Disorders - drug therapy Parkinsonian Disorders - genetics Parkinsonian Disorders - metabolism
- Proton-Translocating ATPases - deficiency Proton-Translocating ATPases - genetics
- Severity of Illness Index -
- Find related publications in this database (Keywords)
- Juvenile parkinsonism
- ATP13A2 gene
- Heterozygous mutation
- [(123)I] SPECT
- PARK9