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.
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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)
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Chemical References |
- Hexosaminidase A
- beta-N-Acetylhexosaminidases
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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)
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