Manganese is an essential trace metal. The dysregulation of manganese seen in a broad
spectrum of neurological disorders reflects its importance in brain development and key …

Hyperkinetic movement disorders are characterized by the presence of abnormal
involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor …

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of
autosomal recessive lysosomal storage disorders that are characterized by …

A growing body of evidence continues to demonstrate the vital roles that zinc and its
transporters play on human health. The mammalian solute carrier 30 (SLC30) family, with …

The manganese (Mn) export protein SLC30A10 is essential for Mn excretion via the liver
and intestines. Patients with SLC30A10 deficiency develop Mn excess, dystonia, liver …

Background Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare,
inherited disorders of manganese transport. Objectives We aimed to describe clinical …

Background A genetic variant in the manganese transporter SLC30A10 (rs188273166, p.
Thr95Ile) was associated with increased plasma alanine transaminase (ALT) in a recent …

Résumé Les mouvements anormaux (MA) représentent un champ majeur de la neurologie
moderne. Ils reflètent en général une dysfonction des ganglions de la base, dont les …

Abstract Background Boucher Neuhäuser Syndrome (BNS) is a rare disease with autosomal
recessive inheritance defined by the classical triad; early-onset ataxia, hypogonadism and …

Manganese transport across cell membranes is highly regulated to prevent toxic
accumulation or deficiency. In recent years, three autosomal recessive disorders of …