Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on
patient management is provided here. Dystonia is a movement disorder characterized by …

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …

The basal ganglia and thalami are paired deep grey matter structures with extensive
metabolic activity that renders them susceptible to injury by various diseases. Most …

Recent MRI advances allow depicting differences between the various subtypes of NBIA,
providing a useful analytical framework for clinicians. Standardization of protocols for image …

Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished
by identifying characteristic changes on magnetic resonance imaging (MRI) in combination …

There have been significant advances in neuroacanthocytosis (NA) syndromes in the past
20 years, however, confusion still exists regarding the precise nature of these disorders and …

Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of
neurodegenerative disorders associated with abnormalities in brain iron metabolism and …

Background Fragile X–associated tremor/ataxia syndrome is a neurodegenerative disease
of late onset developed by carriers of the premutation in the fragile x mental retardation 1 …

Pantothenate kinase (PanK) is the first enzyme in the coenzyme A (CoA) biosynthetic
pathway. The differential expression of the four-active mammalian PanK isoforms regulates …

Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and
complex group of inherited neurodegenerative diseases, characterized by excessive iron …