RESUMO
OBJECTIVE: To describe characteristics of gene-negative patients with clinical features of Huntington's disease (HD), exploring likely etiologies. BACKGROUND: When a direct gene test became definitive for diagnosis of HD, we discovered a number of patients in our clinics in Baltimore, MD, and Cambridge, UK, believed or suspected to have HD who did not have the triplet repeat expansion. METHODS: Patients were examined using standardized instruments, and given full neurologic and psychiatric evaluations. Those negative for HD were tested for dentatorubro-pallidoluysian atrophy, SCA-1, SCA-3, SCA-2, SCA-6, and other conditions as indicated. RESULTS: Of 15 patients, 7 received specific diagnoses or appear to be sporadic cases, 4 have a possible but uncertain relation to HD, and 4 have unknown familial progressive movement disorders. CONCLUSIONS: This last group of patients might be properly described as phenocopies of HD, some of which may be caused by unidentified triplet repeat expansions.
Assuntos
Doença de Huntington/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Repetições de Trinucleotídeos , Adulto , Química Encefálica , Estudos de Coortes , Saúde da Família , Feminino , Humanos , Proteína Huntingtina , Doença de Huntington/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Mutação , Linhagem , FenótipoRESUMO
We describe the management of a genotypic female who developed hyperlipidaemia and premature coronary artery disease following bilateral oophorectomy and methyltestosterone administration, and present evidence to suggest that the therapeutic androgenization involved in the sex-change was responsible for the hyperlipidaemia.
