Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer
disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We …

… In the western-European population, the proportion of DYT1 mutation negative dystonia is
considered higher than in North America [25]. Patients with early-onset PPD not caused by the …

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders
characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations …

Objective: Mutations in the gene encoding phospholipase A 2 group VI (PLA2G6) are
associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and …

Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural …

Purpose: To determine the values of iron accumulation in the basal ganglia of healthy
volunteers of different ages with R2* and raw signal intensity measurements from T1-weighted …

Aim To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1 pathogenic
or likely pathogenic variants delineating the clinical spectrum, course, and response to …

Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding
collection of single gene disorders collectively known as neurodegeneration with brain iron …

… variants: COASY alpha is ubiquitously expressed and has a molecular weight of 60 kDa;
COASY beta is predominantly expressed in the brain and possesses a 29 aa extension at the N …

… Patients with two loss-of-function alleles (n = 11) displayed symptoms always at an early
stage of life. In the presence of missense mutations (n = 37), the age of onset correlated with …