Phenotypic features of Huntington's disease-like 2.
Huntington's disease-like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits.
Walker
Ruth H
RH
Department of Neurology, Veterans Affairs Medical Center, Bronx Mount Sinai School of Medicine, New York, New York 10029, USA. ruth.walker@mssm.edu
Jankovic
Joseph
J
O'Hearn
Elizabeth
E
Margolis
Russell L
RL
D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000175:diagnosis; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014743:Videotape Recording