Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis

Journal of Inherited Metabolic Disease

Volumn 24, Issue 1, 2001, Pages 65-71

  Salman, M S ^a   Clarke, J T R ^a,b   Midroni, G ^c,d   Waxman, M B ^c,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e TORONTO GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GANGLIOSIDE;

ADULT; ARTICLE; AUTONOMIC NERVOUS SYSTEM; AUTONOMIC NEUROPATHY; CARDIOVASCULAR FUNCTION; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHRONIC DISEASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; GM2 GANGLIOSIDOSIS; HEAD TILTING; HEART; HUMAN; MALE; MEDICAL DOCUMENTATION; MONITORING; NERVE CONDUCTION; NERVE FIBER; PERIPHERAL NERVOUS SYSTEM; PERIPHERAL NEUROPATHY; PROSPECTIVE STUDY; PUBLICATION; SENSORIMOTOR NEUROPATHY; SKIN; SYMPATHETIC TONE;

ADULT; AUTONOMIC NERVOUS SYSTEM; FEMALE; HEART; HUMANS; MALE; PERIPHERAL NERVOUS SYSTEM; SANDHOFF DISEASE; SKIN; TAY-SACHS DISEASE;

EID: 0035109154     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005662906859     Document Type: Article

References (14)

1. Autonomic nervous system and cardiac death
2. N-Acetyl-β-hexosaminidase β locus defect and juvenile motor neuron disease: A case study
3. GM2 gangliosidosis with hexosaminidase A and B defect: Report of a family with motor neurone-like phenotype
4. The clinical aspects of adult hexosaminidase deficiencies
5. Demonstration of myenteric plexus abnormalities in genetic diseases by a microdissection technique: Preliminary studies
6. The GM2 gangliosidoses
7. Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk
8. Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease)
9. Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype
10. Juvenile Sandhoff disease with local pan-atrophy, a case report
11. Autonomic nervous system testing
12. Early and serve sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)
13. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases