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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Huntington-like disease 1, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Huntington-like disease 1 comprising 7 guideline-curated and altogether 25 curated genes according to the clinical signs

ID
MP1779
Number of genes
25 Accredited laboratory test
Examined sequence length
19,5 kb (Core-/Core-canditate-Genes)
52,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ATXN23462AD
ATXN31086AD
ATXN72679AD
C9orf721446AD
HTT9429AD
JPH3561AD
PRNP762AD
APP2313AD
ATXN12448AD
CACNA1A6786AD
CHMP2B642AD
CSF1R2919AD
FUS1581AD
GBA11611AD
GRN1782AD
HNRNPA11119AD
HNRNPA2B11026AD
MAPT1326AD, AR
PANK21713AR
PSEN11404AD
PSEN21347AD
SNCA423AD
SNCB405AD
TARDBP1245AD
VCP2421AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
A81.0

Bioinformatics and clinical interpretation

No text defined