Neurodegeneration with Brain Iron Accumulation
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of progressive extrapyramidal disorders which are characterized by the accumulation of brain iron. The term NBIA is now widely used in the medical literature and is sufficiently broad to encompass the spectrum of disorders previously called Hallervorden-Spatz disease as well as other disorders causing elevated levels of brain iron such as neuroaxonal dystrophy, neuroferritinopathy, and aceruloplasminemia.
The major form of NBIA is pantothenate kinase–associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, which is caused by mutations in the PANK2 gene. PKAN accounts for approximately 50% of cases of NBIA. Aceruloplasminemia, caused by mutations in the CP gene, and neuroferritinopathy, caused by mutations in the FTL gene, make up a small proportion of other cases of NBIA.
KeywordsAttention Deficit Hyperactivity Disorder Cervical Dystonia Retinal Degeneration Brain Iron Neurodegeneration With Brain Iron Accumulation
NBIA.mp4 (MP4 11,127KB)
The patient has generalized dystonia which predominantly affects the trunk and cervical regions. Episodes of dystonic spasm are evident when he sits upright and walks. Gait is characterized by short stride length and shuffling together with elbow flexion and shoulder abduction.