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Mov Disord. 2015 Jun;30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17.

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Author information

1
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
2
Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.
3
Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
4
Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum, India.
5
Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
6
Dr. Gulati Imaging Institute, New Delhi, India.
7
Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi, India.

Abstract

BACKGROUND:

SLC30A10 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.

METHODS:

Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis.

RESULTS:

We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous SLC30A10 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.

CONCLUSIONS:

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.

KEYWORDS:

SLC30A10; dystonia; genetics; manganese; metabolic inherited disease

PMID:
25778823
DOI:
10.1002/mds.26202
[Indexed for MEDLINE]

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