“Huntington disease-like phenotype in a patient with ANO3 mutation” Expert commentary

The patient of Dr. Koya Kutty and colleagues developed a progressive hyperkinetic syndrome of perioral and tongue movements in her seventh decade. She exhibited generalised chorea, with unrest of all fingers caught on video (less so of toes). A video instance of mouth opening seemed dystonic to the authors, while the slight mirroring on finger and foot tapping appears within the limits of normal. Slowed backward spelling and calculation is apparent, yet the scarce further detail does not fully support “fronto-parietal compromise with both cortical and subcortical features”.

Source: Parkinsonism and Related Disorders - July 13, 2021 Category: Neurology Authors: Adrian Danek Tags: Editorial Source Type: research