Multiple system atrophy (MSA) is an orphan, fatal, adult-onset neurodegenerative disorder of
uncertain etiology that is clinically characterized by various combinations of parkinsonism …

Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is
the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory …

Cerebellar ataxias require a multidisciplinary approach for diagnosis and management. The
demonstration of anatomical relationships between the cerebellum and basal ganglia …

Friedreich ataxia (FRDA) is an autosomal-recessive disorder characterized by progressive
neurological and cardiac abnormalities. It predominantly affects individuals of European and …

Aside from well-characterized immune-mediated ataxias with a clear trigger and/or
association with specific neuronal antibodies, a large number of idiopathic ataxias are …

Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast
growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia …

Instability of simple DNA repeats has been known as a common cause of hereditary ataxias
for over 20 years. Routine genetic diagnostics of these phenotypically similar diseases still …

Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the
rarity of individual causes. Many patients remain undiagnosed ('idiopathic'ataxia). This …

Movement disorders (MDs) are common in patients with autoimmune disorders affecting the
central and peripheral nervous system. They may be observed in autoimmune disorders …

Immune-mediated cerebellar ataxias (IMCAs), a clinical entity reported for the first time in the
1980s, include gluten ataxia (GA), paraneoplastic cerebellar degenerations (PCDs) …