Klinische FragestellungMorbus Huntington-ähnliche Krankheit 1, Differentialdiagnose

NGS +

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• Genetic prion disease: Creutzfeldt-Jakob d., fatal fam. insomnia, Gerstmann-Sträussler-Scheinker s.
• Alias: Chorea Huntington-ähnliche Krankheit 1
• Alias: Early-onset prion disease with prominent psychiatric features
• Alias: Früh-einsetzende Prionkrankheit mit prominenten psychiatrischen Merkmalen
• Alias: Huntington disease-like 1
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• 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)
• Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
• Amyotrophic lateral sclerosis 20 (HNRNPA1)
• Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
• Aphasia, primary progressive (GRN)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Cerebral amyloid angiopathy, PRNP-related (PRNP)
• Ceroid lipofuscinosis, neuronal, 11 (GRN)
• Creutzfeldt-Jakob disease (PRNP)
• Dementia, Lewy body (SNCA, SNCB)
• Dementia, frontotemporal (PSEN1)
• Dementia, frontotemporal, with/-out parkinsonism (MAPT)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Episodic ataxia, type 2 (CACNA1A)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Gerstmann-Straussler disease (PRNP)
• HARP syndrome [Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigm., Pallidal degen.] (PANK2)
• Huntington disease (HTT_CAG)
• Huntington disease-like 1 (PRNP)
• Huntington disease-like 2 (JPH3_CTG)
• Inclusion body myopathy + early-onset Paget dis. no frontotemporal dementia 3 (HNRNPA1)
• Inclusion body myopathy + early-onset Paget dis. with/-out frontotemporal dementia 2 (HNRNPA2B1)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Insomnia, fatal familial (PRNP)
• Kuru, susceptibility to (PRNP)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Lewy body dementia, susceptibility to (GBA)
• Machado-Joseph disease (ATXN3_CAG)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Pick disease (MAPT)
• Pick disease (PSEN1)
• Spinocerebellar ataxia 1 (ATXN1_CAG)
• Spinocerebellar ataxia 2 (ATXN2_CAG)
• Spinocerebellar ataxia 6 (CACNA1A_CAG)
• Spinocerebellar ataxia 7 (ATXN7_CAG)
• Spongiform encephalopathy with neuropsychiatric features (PRNP)
• Supranuclear palsy, progressive (MAPT)
• Supranuclear palsy, progressive atypical (MAPT)