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Reviews and Case Reports ISSN: 2378-3656

Citation

Agostinho LA, Vasconcellos LF, da Silveira VC, Apolinário T, Gonçalves MS, et al. (2019) Juvenile Huntington' Disease: A Case of Paternal Transmission with an Uncommon CAG Expansion. Clin Med Rev Case Rep 6:253. doi.org/10.23937/2378-3656/1410253

Copyright

© 2019 Agostinho LA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

BRIEF REPORT | OPEN ACCESS DOI: 10.23937/2378-3656/1410253

Juvenile Huntington' Disease: A Case of Paternal Transmission with an Uncommon CAG Expansion

Luciana de Andrade Agostinho1,2,3*, Luiz Felipe Vasconcellos4, Victor Calil da Silveira4, Thays Apolinário4,5, Michele da Silva Gonçalves6,7, Mariana Spitz8 and Carmen Lúcia Antão Paiva1,5

1Programa de Pós-Graduação em de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil

2Centro Universitário Faminas, UNIFAMINAS, Muriaé, Brazil

3Hospital do Câncer de Muriaé - Fundação Cristiano Varella, Muriaé, Brazil

4Instituto de Neurologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

5Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Brazil

6Laboratório Hermes Pardini, Belo Horizonte, Minas Gerais, Brazil

7Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

8Serviço de Neurologia, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil

Abstract

Background

Juvenile HD (JHD) is the result of genetic anticipation that occurs due to instability of CAG expanded alleles (HTT gene) when passed to the next generation, resulting in earlier onset of clinical manifestations in successive generations.

Objective

The aim of this study was to report a Brazilian case of JHD with paternal transmission.

Methods

We evaluated a patient with JHD with chorea, cervical dystonia and aggressiveness. The Unified Huntington' Disease Rating Scale (UHDRS) was applied. The size of CAG allele was double-checked in two laboratories.

Results and conclusions

We report a patient with paternally inherited JHD caused by a large expansion (74 CAG). The patient was prescribed olanzapine 2.5 mg q.d., oxcarbazepine 300 mg bid and underwent botulinum toxin treatment, with partial improvement of aggressiveness and chorea and partial resolution of torticollis. The MRI revealed bilateral caudate and putamen atrophy. JHD is rarer than adulthood HD, with an average prevalence rate of 5%. UHDRS has limited efficacy in evaluating JHD patients independence and functional capacity, as it was originally developed for adult subjects. There is currently no specific scale for JHD patients.