Late onset GM2 gangliosidosis mimicking spinal muscular atrophy

Author:

Jamrozik Z.,Ługowska A.,Gołębiowski M.,Królicki L.,Mączewska J.,Kuźma-Kozakiewicz M.

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference16 articles.

1. Cerebellothalamocortical connectivity regulates penetrance in dystonia;Argyelan;J. Neurosci.,2009

2. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome;Harding;J. Neurol. Neurosurg. Psychiatry,1987

3. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings;Hund;J. Neurol. Sci.,1997

4. MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis;Inglese;Am. J. Neuroradiol. AJNR,2005

5. Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype;Jellinger;Clin. Neuropathol.,1982

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