New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. [electronic resource]
- Journal of neurology, neurosurgery, and psychiatry Sep 2010
- 968-72 p. digital
Publication Type: Case Reports; Journal Article
1468-330X
10.1136/jnnp.2009.177089 doi
Acetylglucosaminidase--blood Adult Age of Onset Cerebellar Ataxia--complications Female Humans Magnetic Resonance Imaging Male Middle Aged Motor Neuron Disease--complications Mutation Phenotype Sandhoff Disease--blood beta-Hexosaminidase beta Chain--genetics