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

IllnessMorbus Huntington, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Morbus Huntington comprising 10 guideline-curated/-mentioned genes and altogether 15 curated genes according to the clinical signs

Number of genes
12 Accredited laboratory test
Examined sequence length
24,2 kb (Core-/Core-canditate-Genes)
31,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Huntington disease (HD) is a progressive neurodegenerative disorder that causes uncontrolled movements, psychiatric problems and in some cases also loss of cognition. Usually HD sets in middle adulthood. Many patients develop involuntary, jerky and twitching movements and also personality changes. They usually live about 15 to 20 years after the onset of symptoms. Far rarer forms may begin in adolescence or even childhood with fairly nonspecific neuropsychiatric changes such as rigidity, epilepsy and slurred speech among other signs. The differential diagnosis is very broad and includes acquired as well as hereditary causes and ranges from benign familial chorea to neurodegenerative disorders. HD phenocopy syndromes include neurodegenerative diseases (dentatorubral pallidoluary atrophy, Huntington-like syndrome 2, spinocerebellar ataxia type 17, familial prion disease and others). Mutations of the C9orf72 gene appear to be the most common cause of HD phenocopy syndromes and also cause familial frontotemporal dementia and familial amyotrophic lateral sclerosis. Huntington-like disease 2 is rare and has been identified mostly in patients of African descent. In addition, pantothenate kinase-associated neurodegeneration presents with dystonia and iron deposition in the basal ganglia, but mostly in children. Neuroferritinopathy is another form of neurodegeneration with iron deposition in the brain, leading to parkinsonism, chorea and dystonia in adults. Neuroacanthocytosis can also cause chorea and dementia associated with acanthocytes. The DNA diagnostic yield, by its very nature, depends critically on the preceding clinical case workup. A negative molecular genetic result represents only the exclusion of the abovementioned clinical molecular genetically defined entities.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1305/


  • Alias [obsolet]: Erblicher Veitstanz
  • Alias [obsolete]: "Chorea" Huntington
  • Alias: Huntington disease
  • Allelic: Acne inversa, familial, 3 (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1U (PSEN1)
  • Allelic: Cardiomyopathy, dilated, 1V (PSEN2)
  • Allelic: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
  • Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1_CAG)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Lopes-Maciel-Rodan syndrome AR [extremely rare, 4 cases] (HTT)
  • Allelic: Parkinson disease, susceptibility to (MAPT)
  • Allelic: Prion disease with protracted course (PRNP)
  • Allelic: Supranuclear palsy, progressive (MAPT)
  • Allelic: Supranuclear palsy, progressive atypical (MAPT)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Alzheimer disease 1, familial (APP)
  • Alzheimer disease 3 (PSEN1)
  • Alzheimer disease 3, with spastic paraparesis + apraxia (PSEN1)
  • Alzheimer disease 3, with spastic paraparesis + unusual plaques (PSEN1)
  • Alzheimer disease 4 (PSEN2)
  • Amyotrophic lateral sclerosis 10, +/- FTD (TARDBP)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoacanthocytosis (VPS13A)
  • Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
  • Dementia, frontotemporal (PSEN1)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • HARP syndrome [Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigm., Pallidal degen.] (PANK2)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CTG)
  • McLeod syndrome with or without chronic granulomatous disease (XK)
  • Neurodegeneration with brain iron accumulation (PANK2)
  • Parkinson disease, susceptibility to (TBP_CAG)
  • Pick disease (MAP, PSEN1)
  • Spinocerebellar ataxia 17 (TBP_CAG)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined