Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases

1. INTRODUCTION

For some neurological and neurodegenerative diseases genetic inheritance is well documented, and guidelins have been improved to ensure a quality diagnostic approach. Unfortunately, this scenario is not reproducible for most of the neurological and neurodegenerative disorders, also when a strong genetic component is documented. This is due to:

• Polygenicity, where different genes can contribute to the same phenotype (eg Spastic Paraplegia, associated with over 50 genes)
• Multifactorial diseases, genetic can explains only a part of the etiology of the disease (such as Parkinson's disease in which the identified genes are responsible for only 15% of patients with a clinical diagnosis)
• Disorders with well established genetic component, but the responsible genes has not been identified.

Therefore, sometimes it impossible or unlikely to complete a molecular diagnosis for patients with a classical or complex phenotypes New technologies such as Next Generation Sequencing (NGS), allow the analysis of hundreds of genes in a single experiment. The implementation of these technologies will help to identify new genes and new variants associate

2. DESIGN STUDY