Objective: To expand the clinical spectrum of manganese-induced neurodegeneration.

Background: Neurodegeneration induced by manganese accumulation is a potentially treatable condition and therefore should not be overlooked. Manganese accumulation, easily detected by hyperintense basal ganglia magnetic resonance imaging (MRI) T1 signal, results from either inborn error of manganese metabolism or from environmental exposure to manganese. Both pediatric genetic progressive forms and severe acquired forms of neurodegeneration induced by manganese accumulations were previously described. We expand here the clinical spectrum of this condition by describing adult patients with a very slowly progressive disease.

Method: Presenting two cases of adults with very slowly progressive neurodegeneration, secondary to manganese accumulation.

Results: The first patient, a 65 year old woman with dysarthria and recurrent falls since the age of 18 years that did not progress for more than 30 years. Currently, her speech is moderately dysarthric and she walks unaided, although reports recurrent falls. Her examination reveals moderate asymmetrical limbs bradykinesia and dystonia and spastic gait with dystonic features.
The second patient, a 55 year old male previously worked as a welder, was assessed in the clinic due to slowly progressive dysarthria and tachyphemic speech that started in his mid-40’s. He also reported recurrent falls that started in his early 50’s. His examination also revealed hypomimia with mild blepharospasm and impaired handwriting.   
Brain MRI of both patients demonstrated T1 hyperintense, nonenhancing, signal in the basal ganglia compatible with manganese accumulation.
Whole exome sequencing revealed a genetic etiology in the first patient (homozygous missense variant p.G356S in the SLC39A14 gene). Patient 2, negative whole exome sequencing led to the assumed etiology of manganese exposure secondary to welding.

Conclusion: Very slowly progressive adult forms of neurodegeneration secondary to manganese accumulation, both genetic and environmental, exist. Since this is a potentially treatable condition, easily detectable by MRI, it should not be overlooked.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adults-with-slowly-progressive-dystonia-parkinsonism-secondary-to-manganese-accumulation/