An Indian Young-onset Dementia With Parkinsonism With Double Heterozygous Mutations in ABCA7 and PRKN Identified Through Whole-exome Sequencing

Alzheimer disease and Parkinson disease dementia are the 2 most common neurodegenerative diseases have substantial overlap in pathologic, genetic, and clinical manifestation and complex in nature. Here, for the first time, we report an Indian female young patient who presented with clinical manifestation of both Alzheimer disease and Parkinsonism, including dystonia with rapid disease progression. We identified a heterozygous mutation in the ATP-binding cassette transporter A7 gene and double heterozygous mutation in PRKN by whole-exome sequencing. This case is an example of complex etiology of neurodegenerative disorders and highlights the importance of genetic tests, including whole-exome sequencing in complex diseases.

Automated summary

This study presents a case of an Indian female patient with clinical symptoms of both Alzheimer's disease and parkinsonism, including rapid dystonia progression. Whole-exome sequencing revealed a heterozygous mutation in the ATP-binding cassette transporter A7 gene and double heterozygous mutation in PRKN. The findings highlight the complex etiology of neurodegenerative disorders and emphasize the importance of genetic tests, such as whole-exome sequencing, in complex diseases.