Motor neurons are cells located in specific areas of the central nervous system, such as brain
cortex (upper motor neurons), brain stem, and spinal cord (lower motor neurons), which …

Leucine-rich repeat kinase 2 (LRRK2) is a kinase involved in different cellular functions,
including autophagy, endolysosomal pathways, and immune function. Mutations in LRRK2 …

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

Multiple system atrophy (MSA) is a progressive neurodegenerative disease that affects several
areas of the CNS, whose pathogenesis is still widely unclear and for which an effective …

Autophagy is a lysosome-dependant intracellular degradation process that eliminates long-lived
proteins as well as damaged organelles from the cytoplasm. An increasing body of …

β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid
glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the …

Spinal muscular atrophy (SMA) is a primary genetic cause of infant mortality due to
mutations in the Survival Motor Neuron (SMN) 1 gene. No cure is available. Antisense …

Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the
GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild …

Evidence from clinical practice suggests that PD patients with the Glucocerebrosidase gene
mutations (GBA-PD) are characterized by more severe dysautonomic symptoms than …

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in
Japan. However, several genetic screenings have not confirmed the role of its variants in the …