A 52-year-old woman with a 10-year history of involuntary, irregular jerking movements of the arms and legs develops progressive cognitive decline and mood disturbances. Brain MRI shows atrophy of the caudate nucleus. Genetic testing reveals a CAG trinucleotide repeat expansion on chromosome 4. Which of the following is the most likely diagnosis?
- A)Fragile X-associated tremor/ataxia syndrome
- B)Spinocerebellar ataxia
- C)Huntington diseaseGABARITO
- D)Parkinson disease
- E)Sydenham chorea
Explicação
Huntington disease is an autosomal dominant disorder caused by CAG repeat expansion on chromosome 4 that encodes the huntingtin protein. It classically presents with chorea, cognitive decline, and psychiatric symptoms, with selective caudate atrophy on imaging... Ver explicação completa e trilha adaptativa →