IllnessPantothenate-kinase-associated neurodegeneration, differential diagnosis

NGS +

Fucosidosis (FUCA1): DD to classic PKAN with early clinical changes: intellectual disability + Dandy-Walker malformation

Leigh syndrome due to many nuclear and mt gene mutations

Infantile neuroaxonal dystrophy (PLA2G6)

Primary familial brain calcification (PDGFB, PDGFRB, SLC20A2)

Aceruloplasminemia (CP)

Neuroferritinopathy (FTL)

Steele-Richardson-Olzewski syndrome (MAPT)

?Leukoencephalopathy with dystonia and motor neuropathy (SCP2)

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

• 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)