Publications by authors named "Elaine Miglorini"
Background: Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and non-ataxic carriers from Brazil.
Methods: Family, age at onset (AO), and seizures data plus DNA were obtained from symptomatic carriers already diagnosed in Porto Alegre, Curitiba, and São Paulo, Brazil.
Article Synopsis
- The study investigates how speech is affected in patients with disorders of the basal ganglia (like Parkinson's disease) compared to those with cerebellar disorders (like spinocerebellar ataxia type 3).
- It includes 20 patients with Parkinson's, 20 with SCA3, and 40 healthy controls, analyzing their speech through specific tasks.
- Results show that SCA3 patients produced fewer syllables in monologs compared to controls, while PD patients had even lower syllable counts and phonation times, indicating that monolog tasks can effectively differentiate between these conditions and correlate with disease severity.