SciELO - Scientific Electronic Library Online

vol.10 issue2Adjuvant transcranial direct current stimulation for treating Alzheimer's disease: A case study author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Dementia & Neuropsychologia

Print version ISSN 1980-5764


NASSIF, Daniel et al. Neurodegeneration with brain iron accumulation: A case report. Dement. neuropsychol. [online]. 2016, vol.10, n.2, pp.160-164. ISSN 1980-5764.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

Keywords : PKAN; NBIA; PANK2.

        · abstract in Portuguese     · text in English     · English ( pdf )