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Huntington's disease-like 2: a phenocopy not to miss.

Authors :
De Oliveira, Daniel Sabino
Santos, Daniela Pereira
Araujo, Daniel Oliveira
Tomaselli, Pedro José
Júnior, WIlson Marques
Vale, Thiago Cardoso
Source :
Practical Neurology; Dec2020, Vol. 20 Issue 6, p479-481, 3p
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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14747758
Volume :
20
Issue :
6
Database :
Complementary Index
Journal :
Practical Neurology
Publication Type :
Academic Journal
Accession number :
147270355
Full Text :
https://doi.org/10.1136/practneurol-2020-002590