Abstract DNAJC12 deficiency is a recently described form of hyperphenylalaninemia (HPA) [1]. HPA represents a metabolic condition caused by a deficiency in either phenylalanine (Phe) hydroxylase (PAH) or in one…
Abstract Muscular tone and movements are highly dependent on the communication of neurons and muscle cells. This complex process is achieved by neurotransmitters, chemical substances synthesized and stored in presynaptic…
Abstract During the evaluation of a patient with a movement disorder, advanced neuroimaging is often obtained to narrow the diagnostic possibilities and also to assess the status of what is…
Abstract Autophagy is a term derived from the Ancient Greek word autóphagos, meaning “self-eating” or “self-devouring.” The term is used to describe a major cellular degradation process that ensures cellular…
Abstract Bilateral calcium deposits are frequently encountered on brain imaging (typically CT scans) or post-mortem examination and may be found in as many as 7% [1] to 20% [2] of…
Abstract Congenital disorders of glycosylation (CDGs) are a group of diseases characterized by an abnormal glycosylation of proteins or lipids. It is estimated that more than half of all proteins…
Abstract Copper is one of the six transition metals that have important biochemical roles in humans, particularly in catalysis and electron transport [1, 2]. Because it can exist in two…
Abstract Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1 DS) (OMIM 606777) is a disorder of brain energy metabolism caused by insufficient transport of glucose from the blood to the…
Abstract The syndromes of neurodegeneration with brain iron accumulation (NBIA) are a group of disorders defined by progressive hypo- and/or hyperkinetic movement disorders and excessive iron deposition in the brain…
Abstract The neuronal ceroid lipofuscinoses (NCLs) are rare, inherited, neurodegenerative, fatal lysosomal diseases of childhood caused by mutations in various genes. Although NCLs comprise more than 10 distinct diseases, they…
