Inherited neurological diseases, both cerebral and neuromuscular, are chronic and disabling disorders whose pathogenesis was barely known a few years ago. However, the advance of technology associated with genomics and multidisciplinary research is allowing a better understanding of their molecular causes and has improved the possibility of diagnosis.
Some hereditary neurological diseases are:
- Huntington’s disease
- Peripheral neuropathies
- Familial spastic paraparesis
- Charcot-Marie-Tooth disease
- Hereditary ataxias
- Muscular dystrophies
- Some epilepsies
In addition, common diseases – such as Parkinson’s disease, migraine, stroke or dementias – may also have a genetic basis.
Advances in the diagnosis of neurogenetic disorders
Nowadays, massive sequencing (multiple gene panels, exome or whole genome) and arrays make it possible to analyze all possible genetic causes simultaneously and in a short time. As a result, it is no longer necessary to resort to successive individual tests, which used to make the diagnosis of patients with neurological problems very long and complex. The interpretation of genomic tests in patients with neurological symptoms should be performed by specialists in neurology and genetics.