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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Huntington disease and Huntington disease-like in a case series from Brazil

R M Castilhos1, A F D Souza, G V Furtado

  • 1Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Rio de Janeiro, Brazil.

Clinical Genetics
|October 10, 2013
PubMed

Insights

Huntington

Area of Science:

  • Neurogenetics
  • Movement Disorders
  • Clinical Neurology

Background:

  • Huntington's disease (HD) and HD-like (HDL) disorders present with similar symptoms, including chorea.
  • Accurate diagnosis is crucial for genetic counseling and management.
  • Previous studies on the prevalence of these disorders in Brazil are limited.

Purpose of the Study:

  • To determine the relative frequency of Huntington's disease (HD) and various HD-like (HDL) disorders in Brazilian families.
  • To identify the genetic causes of chorea in a Brazilian cohort.
  • To analyze the correlation between expanded HTT gene CAG repeats and age-at-onset in HD patients.

Main Methods:

  • A cohort of 104 Brazilian families with suspected HD or HDL disorders was recruited.
  • Molecular genetic testing was performed on genes including HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1, and VPS13A.
  • Clinical data, including age-at-onset and family history, were collected.

Main Results:

  • Huntington's disease (HD) accounted for 89.4% of the diagnosed families.
  • HD-like 2 (HDL2) was identified in 3.8% of families, and spinocerebellar ataxia type 2 (SCA2) in 1%.
  • No cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea, or CHAC were detected. Six families (5.8%) remained undiagnosed.

Conclusions:

  • Huntington's disease (HD) is the predominant cause of these specific neurodegenerative disorders in the studied Brazilian population.
  • HDL2 and SCA2 are rare but present causes of chorea in Brazil.
  • Genetic testing confirmed the genetic basis for most families, highlighting the importance of molecular diagnosis.

Keywords:
BrazilDRPLAHDHD-likeHDL1HDL2Huntington diseaseHuntington disease-like 2SCA2benign hereditary choreachorea-acanthocytosisneuroferritinopathyspinocerebellar ataxia type 2

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