natural history of motor neuron disease in adult onset gm2-gangliosidosis: a case report with 25 years of follow-up
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ID: 188002
2014
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Abstract
An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living.
GM2-gangliosidosis can manifest as a motor neuron disease with a slowly progressive course. The correct knowledge of the natural history can be really important to achieve the diagnosis, design new therapies and evaluate clinical trials.
| Reference Key |
scarpelli2014molecularnatural
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|---|---|
| Authors | ;Mauro Scarpelli;Giuliano Tomelleri;Laura Bertolasi;Alessandro Salviati |
| Journal | advances in skin & wound care |
| Year | 2014 |
| DOI |
10.1016/j.ymgmr.2014.06.002
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