Abstract:
Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare
diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and
management in daily clinical practice. Correct diagnosis is a pillar for precision medicine,
a branch of medicine that promises to flourish with the progressive improvements in
studying the human genome. Discovering the genes causing novel Mendelian phenotypes
contributes to precision medicine by diagnosing subsets of patients with previously
undiagnosed conditions, guiding the management of these patients and their families,
and enabling the discovery of more causes of Mendelian diseases. This new knowledge
provides insight into the biological processes involved in health and disease, including
the more common complex disorders. This review discusses the evolution of the clinical
and genetic approaches used to diagnose hereditary SCD and the potential of new tools
for future discoveries.
