Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab 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)
Web of Science
PubMed
FullText
FullText_MUG
- Co-authors Med Uni Graz
- Schwarzbraun Thomas
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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