1.
Rev Neurol (Paris)
; 175(7-8): 483-484, 2019.
Article
in English
| MEDLINE
| ID: mdl-31221418
Subject(s)
DNA, Mitochondrial/genetics , Mutation , Optic Atrophy, Hereditary, Leber/genetics , Adolescent , Brain/diagnostic imaging , Dystonia/etiology , Equinus Deformity/etiology , Humans , Magnetic Resonance Imaging , Male , Optic Atrophy, Hereditary, Leber/complications , Phenotype , Putamen/diagnostic imaging , Vision Disorders/etiology , Visual Acuity
2.
Rev Neurol (Paris)
; 173(10): 658-662, 2017 Dec.
Article
in English
| MEDLINE
| ID: mdl-28629633
ABSTRACT
Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients.