Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …

Home to a culturally heterogeneous population, India is also a melting pot of genetic
diversity. The population architecture characterized by multiple endogamous groups with …

Background The classification of autosomal recessive ataxias represents a significant
challenge because of high genetic heterogeneity and complex phenotypes. We conducted a …

Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult
to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic …

Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative lysosomal storage diseases
which are considered among the most frequent causes of dementia in childhood worldwide …

Abstract Background Mutations in SLC39A14 cause a recessive disorder of manganese
(Mn) metabolism that manifests as childhood onset progressive neurodegeneration …

Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a
challenge for diagnostic work‐up for ataxia patients in a clinically relevant time and …

Ataxia is a neurological cerebellar disorder characterized by loss of coordination during
muscle movements affecting walking, vision, and speech. Genetic ataxias are very …

Background C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide
receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine monophosphate …

CLN6 is a transmembrane protein located in the endoplasmic reticulum that is involved in
lysosomal acidification. Mutations in CLN6 cause late-infantile neuronal ceroid …