Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
AUTOR(ES)
Schnorf, H
RESUMO
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1073716Documentos Relacionados
- An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
- Ocular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).
- Marfan's syndrome: early and severe form in siblings
- Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.
- Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
