Last modified: 2014-04-03
Abstract
Introduction: GM1 Gangliosidosis is an autossomal recessive disorder caused by B-galactosidase deficiency. It is a rare neurodegenerative disorder with three main clinical forms according to age of onset.
Methods: We performed a prospective study including full neurological examination and neuroimaging in 12 patients from 10 unrelated families.
Results: Consanguinity was denied in all cases but in two families there was recurrence in the sibship. Age at onset ranged from one to 12 years. All patients had short stature and dysostosis multiplex. Neurological involvement was present in all, especially extrapyramidal signs (10/12) including dystonia and chorea mainly affecting the facial segment. All patients presented with dysarthria often progressing to complete anarthria. Pyramidal signs were present in 8/12 patients; cognitive or behavioral abnormalities were reported in 5/12 patients, and mild oculomotor alterations were observed in all subjects who collaborated with the examination.Six patients were submitted to MRI evaluation. All presented with supratentorial volume loss, T2/FLAIR hyposignal at globus pallidus, and FLAIR hypersignal at posterolateral putamina. Reduced putaminal volume and cervical vertebral alterations were also noted.
Conclusions: This large case series for such a rare disorder showed pyramidal and extrapyramidal signs in most patients, which were previously well known in this condition. In addition, we detected cognitive or behavioral impairment in half of the patients, and also mild oculomotor abnormalities not previously reported in this condition. MRI confirmed abnormalities in basal ganglia in all subjects submitted to this exam.
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References
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