Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Abstract

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.

• Authors: H Schnorf, R Gitzelmann, N U Bosshard, M Spycher, W Waespe
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 59 Issue 5 Pg. 520-3 (Nov 1995) ISSN: 0022-3050 [Print] England
• PMID: 8530938 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hexosaminidase A
• beta-N-Acetylhexosaminidases

Topics

• Aged
• Cerebellar Diseases (complications)
• Female
• Hexosaminidase A
• Humans
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Motor Neuron Disease (complications)
• Sandhoff Disease (complications, enzymology, genetics)
• Sensation Disorders (complications)
• Spinal Cord (pathology)
• Time Factors
• beta-N-Acetylhexosaminidases (deficiency)