Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes. Issue 7 (17th March 2015)

• Record Type: Journal Article
• Authors: Quadri, Marialuisa; Kamate, Mahesh; Sharma, Suvasini; Olgiati, Simone; Graafland, Josja; Breedveld, Guido J.; Kori, Indu; Hattiholi, Virupaxi; Jain, Puneet; Aneja, Satinder; Kumar, Atin; Gulati, Parveen; Goel, Medha; Talukdar, Bibek; Bonifati, Vincenzo
• Is Part Of: Movement disorders. Volume 30:Issue 7(2015)
• Page Start: 996
• Page End: 1001
• Publication Date: 2015-03-17
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26202
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="mds26202-sec-0001" sec-type="section"> <title>Background</title> <p> <italic>SLC30A10</italic> mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia, paraparesis, or late‐onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.</p> </sec> <sec id="mds26202-sec-0002" sec-type="section"> <title>Methods</title> <p>Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and <italic>SLC30A10</italic> genetic analysis.</p> </sec> <sec id="mds26202-sec-0003" sec-type="section"> <title>Results</title> <p>We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous <italic>SLC30A10</italic> mutations. Gait and speech disturbances, falls, dystonias, and central hypotonia were the presenting neurological features, starting within the first 5 years of life. All children also had severe hypermanganesemia, polycythemia, variable degree of liver disease, and marked brain MRI T1 hyperintensities.</p> </sec> <sec id="mds26202-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese‐chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society</p> </sec> </abstract>