Klinische FragestellungMorbus Huntington-ähnliche Krankheit 2, Differentialdiagnose

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• Huntington Disease-Like 2 (JPH3_CTG)
• Allelic: Acne inversa, familial, 3 (PSEN1)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
• Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
• Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
• Allelic: Dermatofibrosarcoma protuberans (PDGFB)
• Allelic: HARP [hyperprebetalipoproteinem., acanthocytos., RP, pallidal degen.] syndrome (PANK2)
• Allelic: Hyperferritinemia-cataract syndrome (FTL)
• Allelic: Kuru, susceptibility to (PRNP)
• Allelic: L-ferritin deficiency, AD + AR (FTL)
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• Allelic: Meningioma, SIS-related (PDGFB)
• Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
• Allelic: Parkinson disease, susceptibility to (MAPT)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Alzheimer disease 1, familial (APP)
• Alzheimer disease, type 3 (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + apraxia (PSEN1)
• Alzheimer disease, type 3, with spastic paraparesis + unusual plaques (PSEN1)
• Alzheimer disease-4 (PSEN2)
• Basal ganglia calcification, idiopathic, 1 (SLC20A2)
• Basal ganglia calcification, idiopathic, 5 (PDGFB)
• Basal ganglia calcification, idiopathic, 6 (XPR1)
• Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
• Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Chorea, hereditary benign (NKX2-1)
• Choreoacanthocytosis (VPS13A)
• Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
• Creutzfeldt-Jakob disease (PRNP)
• Dementia, frontotemporal (PSEN1)
• Dementia, frontotemporal, with/-out parkinsonism (MAPT)
• Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
• Gerstmann-Straussler disease (PRNP)
• Huntington disease (HTT_CAG)
• Huntington disease-like 1 (PRNP)
• Insomnia, fatal familial (PRNP)
• Machado-Joseph disease (ATXN3_CAG)
• McLeod syndrome with/-out chronic granulomatous disease (XK)
• Mitochondrial AR ataxia s. [incl. SANDO {sensory ataxic neurop., dysarthria, ophthalmopar.}] (POLG)
• Mitochondrial AR ataxia syndrome [incl. SCAE {SCA + epilepsy}] (POLG)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Parkinson disease, susceptibility to (TBP)
• Pick disease (MAPT)
• Pick disease (PSEN1)
• Spinocerebellar ataxia 17 (TBP_CAG)
• Spinocerebellar ataxia 2 (ATXN2_CAG)
• Spinocerebellar ataxia 7 (ATXN7_CAG)
• Spongiform encephalopathy with neuropsychiatric features )PRNP)
• Supranuclear palsy, progressive (MAPT)
• Supranuclear palsy, progressive atypical (MAPT)
• Wilson disease (ATP7B)