Detection of dentate nuclei abnormality in a patient with dentatorubral-pallidoluysian atrophy using the quantitative susceptibility mapping

Dentatorubral-pallidoluysian atrophy (DRPLA) is a polyglutamine disease caused by a cytosine-adenine-guanine (CAG) repeat expansion in the DRPLA gene, resulting in a protein with a long polyglutamine tract that has a toxic effect on neuronal populations [1]. Huntington’s disease (HD) is another polyglutamine disease caused by a CAG repeat expansion in the Huntingtin gene [2]. These two entities share overlapping clinical features, so making a diagnosis purely on clinical grounds may be challenging.

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