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

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 59; no. 5; pp. 520 - 523
• Main Authors: Schnorf, H, Gitzelmann, R, Bosshard, N U, Spycher, M, Waespe, W
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.11.1995; BMJ; BMJ Publishing Group LTD
• Subjects: Aged; beta-N-Acetylhexosaminidases - deficiency; Biological and medical sciences; Cerebellar Diseases - complications; Female; Hexosaminidase A; Humans; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Motor Neuron Disease - complications; Nervous system involvement in other diseases. Miscellaneous; Neurology; Sandhoff Disease - complications; Sandhoff Disease - enzymology; Sandhoff Disease - genetics; Sensation Disorders - complications; Spinal Cord - pathology; Time Factors; Cerebellum; Human; Sensitivity disorder; Gangliosidosis; Nervous system diseases; Correlation; Metabolic diseases; Sibling; Enzymopathy; Sandhoff disease; Cerebral disorder; Genetic disease; Case study; Symptomatology; Cerebellar disease; Central nervous system disease; Ataxia; Neurological disorder; Lipoidosis
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.59.5.520

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.