Ontology highlight
ABSTRACT:
SUBMITTER: Rohani M
PROVIDER: S-EPMC6353413 | biostudies-literature | 2017 Sep-Oct
REPOSITORIES: biostudies-literature
Rohani Mohammad M Shahidi Gholamali G Alavi Afagh A Lang Anthony E AE Yousefi Niloufar N Razme Said S Fasano Alfonso A
Movement disorders clinical practice 20170630 5
Neurodegeneration with brain iron accumulation (NBIA) includes a rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase-associated neurodegeneration (PKAN) is the most common NBIA and has 2 main presentations: typical and atypical, the latter rarely presents with tremor. Our reported patients underwent full neurologic examination, standard brain magnetic imaging, and genetic testing for PKAN. Three patients who had "tremor-dominant" P ...[more]