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Huntington's disease-like 2: a phenocopy not to miss
Daniel Sabino De Oliveira1, Daniela Pereira Santos1, Daniel Oliveira Araujo1
1Neurology Service, University Hospital, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil.
Practical Neurology
|September 30, 2020
Summary
Huntington's disease-like 2 (HDL2) caused choreiform movements and parkinsonism in a Brazilian family. Genetic testing confirmed HDL2, differentiating it from Huntington's disease.
Area of Science:
- Neurogenetics
- Movement Disorders
Background:
- Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by chorea, cognitive decline, and psychiatric symptoms.
- Chorea can also result from other genetic conditions, necessitating accurate differential diagnosis.
Observation:
- A 67-year-old man and his 60-year-old sister presented with choreiform movements, parkinsonism, slow saccades, and dysexecutive syndrome.
- The male sibling also experienced four epileptic seizures.
- Genetic testing for HD was negative, but positive for Huntington's disease-like 2 (HDL2).
Findings:
- The study identified Huntington's disease-like 2 (HDL2) as the causative genetic factor in a Brazilian family presenting with chorea and parkinsonism.
- This case highlights the genetic heterogeneity of choreiform movement disorders.
Implications:
- Accurate genetic diagnosis of HDL2 is crucial for appropriate patient management and genetic counseling.
- Distinguishing HDL2 from HD is important for prognosis and potential therapeutic strategies.
Keywords:
Alzheimer’s diseaseEMGcerebellar ataxiadementialeprosymotor neuron diseasemovement disordersneurogeneticsneuropathyparkinson’s diseaseMore Related Videos
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