Doença vestibular em cães: 81 casos (2006-2013)

De 2006 a 2013 foram diagnosticados 81 casos de doença vestibular canina no serviço de rotina em neurologia de um hospital veterinário universitário do sul do Brasil. Desses, aproximadamente dois terços foram diagnosticados com doença vestibular central (DVC) e cerca de um terço como doença vestibular periférica (DVP). Cães com raça definida foram mais acometidos que aqueles sem raça definida, principalmente Dachshund (DVP) e Boxer (DVC). Os principais sinais clínicos observados, tanto na DVP quanto na DVC, incluíram: inclinação de cabeça, ataxia vestibular e estrabismo ventral ou ventrolateral. Deficiência proprioceptiva, disfunção dos nervos cranianos V-XII e alteração de nível de consciência foram vistos apenas em casos de DVC, já a ausência de reflexo palpebral ocorreu apenas em casos de DVP. Doenças inflamatórias/infecciosas, principalmente cinomose e otite bacteriana, foram as condições mais comumente associadas à DVC e à DVP, respectivamente. Esse artigo estabelece os aspectos epidemiológicos (sexo, idade e raça) e a prevalência dos sinais clínicos observados em cães com doença vestibular na Região Central do Rio Grande do Sul, discute a utilização dos achados clínicos no diagnóstico correto e na diferenciação entre DVC e DVP, e define quais as principais doenças responsáveis pela ocorrência dessas duas síndromes clínicas.

Molecular characteristics of Machado-Joseph disease mutation in 25 newly described Brazilian families

Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion of a CAG repeat in the coding region of the MJD1 gene. We have identified 25 unrelated families segregating the MJD mutation during a large collaborative study of spinocerebellar ataxias in Brazil. In the present study a total of 62 family members were genotyped for the CAG repeat in the MJD1 gene, as well as 63 non-MJD individuals (126 normal chromosomes), used as normal controls. We observed a wide gap between the size range of the normal and expanded CAG repeats: the normal allele had from 12 to 33 CAGs (mean = 23 CAGs), whereas the expanded alleles ranged from 66 to 78 CAGs (mean = 71.5 CAGs). There were no differences in CAG tract length according to gender of affected individuals or transmitting parent. We observed a significant negative correlation between age at onset of the disease and length of the CAG tract in the expended allele (r = -0.6, P = 0.00006); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2 = 0.4). There was instability of the expanded CAG tract during transmission from parent to offspring, both expansions and contractions were observed; however, there was an overall tendency for expansion, with a mean increase of +2.4 CAGs. The tendency for expansion appeared to the greater in paternal (mean increase of +3.5 CAGs) than in maternal transmissions (mean increase of +1.3 CAGs). Anticipation was observed in all transmissions in which ages at onset for parent and offspring were known; however, anticipation was not always associated with an increase in the expanded CAG repeat length. Our results indicate that the molecular diagnosis of MJD can be confirmed or excluded in all suspected individuals, since alleles of intermediary size were not observed.