The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …

Endurance exercise is a widely accessible, low-cost intervention with a variety of benefits to
multiple organ systems. Exercise improves multiple indices of physical performance and …

Abstract Background Niemann–Pick disease type C is a rare lysosomal storage disorder.
We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially …

Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific
combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause …

Ataxia due to an autosomal dominant intronic GAA repeat expansion in FGF14 [GAA-FGF14
ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the …

Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its
downregulation and progressively impaired cardiac and neurological function. Current gold …

The cerebellum is involved in sensorimotor operations, cognitive tasks and affective
processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent …

Dominantly inherited GAA repeat expansions in FGF14 are a common cause of
spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular …

Background GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described
neurodegenerative disease caused by (GAA)≥ 250 expansions in the fibroblast growth …

The retina and the optic nerve are considered extensions of the central nervous system
(CNS) and thus can serve as the window for evaluation of CNS disorders. Spectral domain …