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Huntington's disease-like 2: a phenocopy not to miss
- Source :
- Practical neurology. 20(6)
- Publication Year :
- 2020
-
Abstract
- A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington’s disease were negative but were positive for Huntington’s disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Genetic counseling
Choreiform movement
Neurogenetics
03 medical and health sciences
0302 clinical medicine
Huntington's disease
Parkinsonian Disorders
mental disorders
medicine
Humans
Aged
Dysexecutive syndrome
Phenocopy
business.industry
Parkinsonism
Chorea
General Medicine
Middle Aged
medicine.disease
nervous system diseases
Huntington Disease
Phenotype
Female
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14747766
- Volume :
- 20
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Practical neurology
- Accession number :
- edsair.doi.dedup.....8769beecc38b66ed72fb8428737e9b83