IllnessPantothenate-kinase-associated neurodegeneration, differential diagnosis

NGS +

The most common type of neurodegeneration with brain iron accumulation, rare neurodegenerative disorder with progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in brain, axonal spheroids in the central nervous system

DD to classic PKAN (early clinical changes): intellectual disability with Dandy-Walker malformation, Fucosidosis (FUCA1 gene), Leigh syndrome (many nuclear genes and mt mutations), Infantile neuroaxonal dystrophy (PLA2G6 gene).

Primary familial brain calcification (PDGFB, PDGFRB, SLC20A2 genes).

Aceruloplasminemia (CP gene).

Neuroferritinopathy (FTL gene).

Steele-Richardson-Olzewski syndrome (MAPT gene).

?Leukoencephalopathy with dystonia and motor neuropathy (SCP2 gene).

Waisman syndrome, X-linked mental retardation-72 with early-onset Parkinson disease (RAB39B gene).

• Alias: PKAN
• Allelic: Cerebellar ataxia (CP)
• Allelic: HARP syndrome (PANK2)
• Allelic: Hyperferritinemia-cataract syndrome (FTL)
• Allelic: Hypoceruloplasminemia, hereditary (CP)
• Allelic: L-ferritin deficiency, AD + AR (FTL)
• Allelic: Mental retardation, XL 72 (RAB39B)
• Allelic: Parkinson disease 14, AR (PLA2G6)
• Allelic: Pontocerebellar hypoplasia, type 12 (COASY)
• Fatty acid hydrolase-associated neurodegeneration (FA2H)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Infantile neuroaxonal dystrophy 1 [NBIA2A] (PLA2G6)
• Kufor-Rakeb syndrome (ATP13A2)
• Neurodegeneration with brain iron accumulation 1 [NBIA1], obsolete Hallervorden-Spatz synd. (PANK2)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 4 (C19orf12)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodegeneration with brain iron accumulation 7 (REPS1)
• Neurodegeneration with brain iron accumulation 8 (CRAT)
• PKAN (PANK2)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 43, AR (ATP13A2)
• Spastic paraplegia 78, AR (ATP13A2)
• Sterol carrier protein 2 deficiency (SCP2)
• Waisman syndrome (RAB39B)
• Woodhouse-Sakati syndrome (DCAF17)