From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in...

A 19-year-old female patient presented at 2 years of age with dysarthria, incoherent speech, and unsteady ambulation. She is prone to leaning backward when walking and has involuntary movements of the whole body. Besides, she has poor numeracy skills. She has been diagnosed with Wilson's disease (WD) in China and Japan.

The objective of this study was to further clarify the diagnosis of this patient.

The patient and her parents were detected with whole-exome sequencing.

Based on the genetic test results, genetic analyses, and clinical manifestations, a diagnosis of WD in this patient was ruled out. The patient was eventually diagnosed with neurodevelopmental disorder with involuntary movements.

This study reinterprets the genetic test results of a young female patient and leads to reflections on the genetic diagnostic criteria for WD: the Leipzig score is suitable for the diagnosis of most WD patients, and the genetic testing section of the score is of great diagnostic value. However, in some special cases, the proband and their first-degree relatives should further complete cosegregation analysis to determine the origin of the lesion gene and to verify the reliability of the genetic test. In addition, this study suggests that further improving the scoring rules of the gene testing part of the Leipzig scoring system may be more helpful in achieving an accurate diagnosis of WD. © 2024 International Parkinson and Movement Disorder Society.