title: Huntington's disease--like 2 can present as chorea-acanthocytosis.
abstract: Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington's disease-like 2 (HDL2). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.
authors.affiliation: Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA. ruth.walker@mssm.edu
authors.forename: R H
authors.initials: RH
authors.lastname: Walker
authors.forename: A
authors.initials: A
authors.lastname: Rasmussen
authors.forename: D
authors.initials: D
authors.lastname: Rudnicki
authors.forename: S E
authors.initials: SE
authors.lastname: Holmes
authors.forename: E
authors.initials: E
authors.lastname: Alonso
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: T
authors.initials: T
authors.lastname: Ashizawa
authors.forename: B
authors.initials: B
authors.lastname: Davidoff-Feldman
authors.forename: R L
authors.initials: RL
authors.lastname: Margolis
mesh_terms: D000050:Acanthocytes / Q000737:chemistry / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001457:Anion Exchange Protein 1, Erythrocyte / Q000032:analysis; D002819:Chorea / Q000235:genetics* / Q000473:pathology*; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000737:chemistry; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011506:Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D033921:Vesicular Transport Proteins
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D008565:Membrane Proteins; D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins; C412507:junctophilin