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Diffuse Neuroaxonal Involvement in Mucolipidosis IV as Assessed by Proton Magnetic Resonance Spectroscopic Imaging

Second Division of Neurology, Second University of Naples, Naples, Italy, Neuroimaging Branch, Second University of Naples, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD

Anette Virta, MD

Neuroimaging Branch, Second University of Naples, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD

Neal Jeffries, PhD

Biometry and Field Studies Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD

Ehud Goldin, PhD

Developmental and Metabolic Neurology Branch, Second University of Naples, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD

Gioacchino Tedeschi, MD

Second Division of Neurology, Second University of Naples, Naples, Italy, Neuroimaging Branch, Second University of Naples, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD

Raphael Schiffmann, MD

Developmental and Metabolic Neurology Branch, Second University of Naples, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, RS4e{at}nih.gov

Mucolipidosis IV is an autosomal recessive disorder caused by mutations in MCOLN1, which codes for mucolipin, a transient receptor potential protein. In order to investigate brain metabolic abnormalities in mucolipidosis IV, we studied 14 patients (11 children, 3 adults) by proton magnetic resonance spectroscopic imaging. The ratios of N-acetylaspartate/ creatine-phosphocreatine and N-acetylaspartate/choline-containing compounds in patients with mucolipidosis IV were significantly reduced in all regions of interest except the parietal gray matter and thalamus. The ratios of choline-containing compounds/creatine-phosphocreatine was not significantly reduced in patients compared with controls. The ratio of N-acetylaspartate/creatine-phosphocreatine were significantly lower (P = .005) in the more neurologically impaired patients compared with the least impaired. For every region of interest, except for parietal gray matter, the ratio of N-acetylaspartate/creatine-phosphocreatine was lower in the more motorically impaired patient group. There was no difference for the ratio of N-acetylaspartate/creatine-phosphocreatine between younger and older patients. These findings suggest that mucolipidosis IV is largely a static developmental encephalopathy associated with diffuse neuronal and axonal damage or dysfunction. Mucolipin deficiency impairs motor more than sensory central nervous system pathways. (J Child Neurol 2003;18:443—449).

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