In 1916, von Economo first described encephalitis lethargica (EL), a CNS disorder presenting
with pharyngitis followed by sleep disorder, basal ganglia signs (particularly parkinsonism) …

In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis
of pyridoxal 5′-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results …

The amino acid l-serine, one of the so-called non-essential amino acids, plays a central role
in cellular proliferation. l-Serine is the predominant source of one-carbon groups for the de …

Introduction Virchow-Robin spaces (VRS) are perivascular spaces in the brain and can be
visualized on magnetic resonance images (MRI). We attempt to provide a better …

The mechanisms by which deficiency of hepatic phenylalanine hydroxylase causes central
nervous system disease are reviewed. The neurological disease appears to be secondary to …

Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine
(L-DOPA), the rate-limiting step in the biosynthesis of dopamine. This report describes a …

We report the clinical features, biochemical details, and treatment of the first detected cases
of an inborn error of aromatic L-amino acid decarboxylase. Male monozygotic twins …

The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with
Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration. To date only two …

Data on psychogenic movement disorders (PMD) in children are scarce, with most existing
literature relating to adults only. We report 15 cases with the aim of highlighting the clinical …

BACKGROUND AND PURPOSE: Leukoencephalopathies of unknown origin constitute a
considerable problem in child neurology. The purpose of our ongoing study of the subject was …