Huntington disease phenocopy syndrome

Also known as: Huntington disease-like syndromes (HDL1–HDL3 and phenocopies)

Disorders mimicking Huntington disease without HTT expansion.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: rare, mainly adults
Gene(s) involved: ATN1, ATXN2, ATXN3, FTL, HDL3, JPH3, PANK2, PRNP, TBP, VPS13A, XK

Etiology & mechanism

Genetic: PRNP octapeptide repeats, JPH3, TBP and others.

Gene(s) involved (11)

ATN1ATXN2ATXN3FTLHDL3JPH3PANK2PRNPTBPVPS13AXK

Symptoms & signs (4)

choreacognitive declinedystoniapsychiatric symptoms

Note

Overlaps #72

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.