Abstract Details

Title Saccadic Eye-Movement in Parkinsonism/Dystonia Associated with Hypermanganesemia Due to Mutation in SLC30A10

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P06 - (-)

Poster/Presentation
Number 020

Objective

Background BACKGROUND: Manganese (Mn) is an essential element for several metabolic pathways, however its excess can cause accumulates in the liver, muscle, and brain, particularly in the basal ganglia. Recently, mutations in SLC30A10 have been identified as responsible for an autosomal recessive syndrome characterized by severe hypermanganesemia, hepatic cirrhosis, polycytemia, and extrapyramidal motor disorder. Eye movement characteristics have not been described yet.

Design/Methods DESIGN/METHODS: Two symptomatic patients with mutation in SLC30A10 were recorded using an infra-red eye-tracker during various saccadic paradigms: visually-guided saccades, fixation, and anti-saccades. Main saccadic parameters were statistically compared with those of 18 healthy controls. Results were discussed in relation to the clinical and MRI findings.

Results RESULTS: Patients were affected by severe hypermanganesemia (106.0 mcg/l and 104.0 mcg/l, respectively, n.r. 3.0-8.0). The neurological examination showed in both subjects extra-pyramidal motor impairment with hypomimia, monotone speech, mild hyperkinesias and rigidity, wide-based gait with freezing and festination, and postural instability. Brain MRI revealed bilateral hyperintensities at the level of the caudate and lentiform nuclei, thalamus, corticospinal tract, substantia nigra, posterior pons, and bulbar olive. Abnormalities were also widely present in the cerebellum and cerebello-rubro-thalamic pathways. When compared with controls visually guided saccades of patients were significantly hypometric (p<0.05) and less accurate (p<0.01). Patients showed also a significant impairment in inhibiting reflexive saccades (p<0.01). No significant differences in the saccadic parameters were found after a short period of chelation therapy.

Conclusions CONCLUSIONS: Symptomatic patients with Parkinsonism/Dystonia associated with hypermanganesemia due to mutation in SLC30A10 show peculiar saccadic abnormalities. Saccadic analysis, therefore, may be useful for addressing diagnosis in parkinsonian syndromes and evaluating the progression of the diseases.

Authors/Disclosures
PRESENTER	No disclosure on file
Francesca Rosini, MD (Neurological, Neurosurgical and Behavioural Sciences)	No disclosure on file
Pamela Federighi (University of Siena)	No disclosure on file
	No disclosure on file
Antonio Federico, MD, Prof (Dipartimento Medicina, Chirurgia E Neuroscienze)	No disclosure on file
Alessandra Rufa, MD, PhD (Neurosciences University of Siena)	No disclosure on file
Katherine D. Mathews, MD, FAAN (University of Iowa - Dept of Pediatrics)	Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.

��ɫ��

��ɫ��