A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration

Neurodegeneration with brain iron accumulation (NBIA) disorders are a heterogeneous set of inherited, rare and clinically diverse neurological diseases often characterised by neuropathology of the basal ganglia as a consequence of iron deposition. They are usually childhood-onset genetic conditions and the majority of affected individuals present with developmental delay, abnormal behavior, progressive cognitive impairment and pyramidal/extrapyramidal movement disruption. Post-mortem pathology highlights axonal swellings with ubiquitinated aggregates, tau tangles or Lewy bodies, depending on the NBIA subtype [1].

from Journal of the Neurological Sciences https://ift.tt/2Z42mCc