Huntington's disease--like 2 can present as chorea-acanthocytosis.
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.
Walker
R H
RH
Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA. ruth.walker@mssm.edu
Rasmussen
A
A
Rudnicki
D
D
Holmes
S E
SE
Alonso
E
E
Matsuura
T
T
Ashizawa
T
T
Davidoff-Feldman
B
B
Margolis
R L
RL
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
D001457:Anion Exchange Protein 1, Erythrocyte; D008565:Membrane Proteins; D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins; C412507:junctophilin