Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype

Huntington’s disease (HD) is a neurodegenerative disorder
characterized by chorea, behavioral disturbances and dementia,
caused by a pathological expansion of the CAG trinucleotide in the
HTT gene. Several patients have been recognized with the typical HD
phenotype without the expected mutation. The objective of this
study was to assess the occurrence of diseases such as Huntington’s
disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3,
SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and
choreaacanthocytosis (ChAc) among 29 Brazilian patients with a
HD-like phenotype. In the group analyzed, we found 3 patients with
HDL2 and 2 patients with ChAc. The diagnosis was not reached in
79.3% of the patients. HDL2 was the main cause of the HD-like
phenotype in the group analyzed, and is attributable to the African
ancestry of this population. However, the etiology of the disease
remains undetermined in the majority of the HD negative patients
with HD-like phenotype. Key words: Huntington’s disease,
Huntington’s disease-like, chorea-acanthocytosis, Huntington’s
disease-like 2.