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Huntington’s disease-like 2: a phenocopy not to miss
by
Júnior, WIlson Marques
, De Oliveira, Daniel Sabino
, Santos, Daniela Pereira
, Vale, Thiago Cardoso
, Araujo, Daniel Oliveira
, Tomaselli, Pedro José
in
Atrophy
/ Brain damage
/ Convulsions & seizures
/ Disease
/ Dysarthria
/ Family medical history
/ Genealogy
/ Genotype & phenotype
/ Huntingtons disease
/ Motor neurone disease
/ Movement disorders
/ Parkinson's disease
/ Systematic review
2020
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Huntington’s disease-like 2: a phenocopy not to miss
by
Júnior, WIlson Marques
, De Oliveira, Daniel Sabino
, Santos, Daniela Pereira
, Vale, Thiago Cardoso
, Araujo, Daniel Oliveira
, Tomaselli, Pedro José
in
Atrophy
/ Brain damage
/ Convulsions & seizures
/ Disease
/ Dysarthria
/ Family medical history
/ Genealogy
/ Genotype & phenotype
/ Huntingtons disease
/ Motor neurone disease
/ Movement disorders
/ Parkinson's disease
/ Systematic review
2020
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Do you wish to request the book?
Huntington’s disease-like 2: a phenocopy not to miss
by
Júnior, WIlson Marques
, De Oliveira, Daniel Sabino
, Santos, Daniela Pereira
, Vale, Thiago Cardoso
, Araujo, Daniel Oliveira
, Tomaselli, Pedro José
in
Atrophy
/ Brain damage
/ Convulsions & seizures
/ Disease
/ Dysarthria
/ Family medical history
/ Genealogy
/ Genotype & phenotype
/ Huntingtons disease
/ Motor neurone disease
/ Movement disorders
/ Parkinson's disease
/ Systematic review
2020
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Journal Article
Huntington’s disease-like 2: a phenocopy not to miss
2020
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Overview
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.
Publisher
BMJ Publishing Group LTD
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