Klinische FragestellungParkinson-Syndrom, früh-adult [<50 Lj.]; Differentialdiagnose

PP9145_DH

illness_ClinicalComment_PP9145

• Alias: Morbus Parkinson; Parkinson disease; []primary] Parkinsonism
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2_CAG)
• Allelic: Combined SAP deficiency (PSAP)
• Allelic: Gaucher disease, atypical (PSAP)
• Allelic: Hyperostosis cranialis interna (SLC39A14)
• Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Allelic: Krabbe disease, atypical (PSAP)
• Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• Allelic: Spinocerebellar ataxia 17 (TBP_CAG)
• Allelic: Spinocerebellar ataxia 2 (ATXN2_CAG)
• Allelic: Spinocerebellar ataxia 8 (ATXN8OS_CTG)
• 3-methylglutaconic aciduria, type III (OPA3)
• Aphasia, primary progressive (GRN)
• Chediak-Higashi syndrome (LYST)
• Choreoacanthocytosis (VPS13A)
• Dystonia 12; rapid-onset dystonia-parkinsonism (ATP1A3)
• Dystonia 16 (PRKRA)
• Dystonia 4, torsion, AD /TUBB4A)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• HARP [Hyperprebetalipoproteinemia, Acanthocytosis, Rp, Pallidal degener.] syndrome (PANK2)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypermanganesemia with dystonia 1 (SLC30A10)
• Hypermanganesemia with dystonia 2 (SLC39A14)
• Kufor-Rakeb syndrome; Parkinson disease 9 (ATP13A2)
• L-ferritin deficiency, AD, AR (FTL)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Machado-Joseph disease (ATXN3_CAG)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Parkinson disease 1 (SNCA)
• Parkinson disease 11 (GIGYF2)
• Parkinson disease 13 (HTRA2)
• Parkinson disease 14, AR (PLA2G6)
• Parkinson disease 15, AR (FBXO7)
• Parkinson disease 17 (VPS35)
• Parkinson disease 18 (EIF4G1)
• Parkinson disease 19a, juvenile-onset (DNAJC6)
• Parkinson disease 19b, early-onset (DNAJC6)
• Parkinson disease 2, juvenile (PRKN)
• Parkinson disease 20, early-onset (SYNJ1)
• Parkinson disease 22, AD (CHCHD2)
• Parkinson disease 24, AD, susceptibility to (PSAP)
• Parkinson disease 4 (SNCA)
• Parkinson disease 5, susceptibility to (UCHL1)
• Parkinson disease 6, early onset (PINK1)
• Parkinson disease 7, AR early-onset (PARK7)
• Parkinson disease 8 (LRRK2)
• Parkinson disease susceptibility to [only in OMIM text] (ATXN3_CAG)
• Parkinson disease, age of onset, modifier (GLUD2)
• Parkinson disease, late-onset, susceptibility to (ATXN2_CAG)
• Parkinson disease, late-onset, susceptibility to (GBA)
• Parkinson disease, susceptibility to (ADH1C, MAPT, TBP)
• Parkinson disease, susceptibility to (ATXN8OS_CTG)
• Spastic paraplegia 11, AR (SPG11)
• Waisman syndrome (RAB39B)