ErkrankungNeurodegeneration mit Eisenspeicherung im Gehirn; Differentialdiagnose

NGS +

Neurodegenerative Erkrankungen, gekennzeichnet durch progressive extrapyramidale Dysfunktion (Dystonie, Rigidität, Choreoathetose), Eisenansammlung im Gehirn + von axonalen Sphäroiden, die gewöhnlich auf das ZNS beschränkt sind

• Alias: Neurodegeneration with brain iron accumulation, NBIA
• Allelic: Acne inversa, familial, 3 (PSEN1)
• Allelic: Hyperostosis cranalis interna (SLC39A14)
• Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Alzheimer disease, type 3 (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
• Cardiomyopathy, dilated, 1U (PSEN1)
• Cerebellar ataxia (CP)
• Choreoacanthocytosis (VPS13A)
• Dementia, frontotemporal (PSEN1)
• Dystonia 28, childhood-onset (KMT2B)
• Frontotemporal dementia +/or amyotrophic lateral sclerosis 3 (SQSTM1)
• Fucosidosis (FUCA1)
• Glutaricaciduria, type I (GCDH)
• HARP [Hyperprebetalipoproteinemia, Acanthocyt., Retinit. pigment., Pallidal degen.] syndrome (PANK2)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypermanganesemia + dystonia 2 (SLC39A14)
• Hypoceruloplasminemia, hereditary (CP)
• Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Kufor-Rakeb syndrome (ATP13A2)
• L-ferritin deficiency, AD + AR (FTL)
• Leukoencephalopathy with dystonia + motor neuropathy (SCP2)
• Mental retardation, XL 72 (RAB39B)
• NESCAV [NEurodeg., Spasticity +/- Cerebellar Atrophy or cortical Visual impairment] syndrome (KIF1A)
• Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 2A, 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)
• Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
• Neuropathy, hereditary sensory, type IIC (KIF1A)
• Paget disease of bone 3 (SQSTM1)
• Parkinson disease 14, AR (PLA2G6)
• Pick disease (PSEN1)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Spastic paraplegia 30, AD (KIF1A)
• Spastic paraplegia 30, AR (KIF1A)
• Spastic paraplegia 35, AR (FA2H)
• Spastic paraplegia 43, AR (C19orf12)
• Spastic paraplegia 78, AR (ATP13A2)
• Waisman syndrome (RAB39B)
• Woodhouse-Sakati syndrome (DCAF17)