Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
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.
Department of Neurology, University Hospital, Zürich, Switzerland.
H
H
Schnorf
R
R
Gitzelmann
N U
NU
Bosshard
M
M
Spycher
W
W
Waespe
D000368:Aged; D002526:Cerebellar Diseases / Q000150:complications; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications; D012497:Sandhoff Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D012678:Sensation Disorders / Q000150:complications*; D013116:Spinal Cord / Q000473:pathology; D013997:Time Factors; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases