Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)
| Autor: | W Waespe, Max A. Spycher, H Schnorf, Gitzelmann R, N U Bosshard |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Cerebellum Ataxia Time Factors Physiology Neurological disorder Sandhoff disease Gangliosidosis Hexosaminidase A Cerebellar Diseases Internal medicine medicine Humans Hexosaminidase Motor Neuron Disease Aged Cerebellar ataxia Sensory loss Sandhoff Disease Middle Aged medicine.disease Magnetic Resonance Imaging beta-N-Acetylhexosaminidases Psychiatry and Mental health Endocrinology medicine.anatomical_structure Spinal Cord Sensation Disorders Surgery Female Neurology (clinical) medicine.symptom Psychology Research Article |
| Zdroj: | Journal of neurology, neurosurgery, and psychiatry. 59(5) |
| ISSN: | 0022-3050 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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