Abstract
A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.
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Selected References
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- Gudesblatt M., Ludman M. D., Cohen J. A., Desnick R. J., Chester S., Grabowski G. A., Caroscio J. T. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve. 1988 Mar;11(3):227–230. doi: 10.1002/mus.880110307. [DOI] [PubMed] [Google Scholar]
- Hardie R. J., Young E. P., Morgan-Hughes J. A. Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):446–447. doi: 10.1136/jnnp.51.3.446. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Harding A. E., Young E. P., Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):687–690. doi: 10.1136/jnnp.50.6.687. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jacobs J. M., Love S. Qualitative and quantitative morphology of human sural nerve at different ages. Brain. 1985 Dec;108(Pt 4):897–924. doi: 10.1093/brain/108.4.897. [DOI] [PubMed] [Google Scholar]
- Johnson W. G. The clinical spectrum of hexosaminidase deficiency diseases. Neurology. 1981 Nov;31(11):1453–1456. doi: 10.1212/wnl.31.11.1453. [DOI] [PubMed] [Google Scholar]
- Mitsumoto H., Sliman R. J., Schafer I. A., Sternick C. S., Kaufman B., Wilbourn A., Horwitz S. J. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol. 1985 Apr;17(4):378–385. doi: 10.1002/ana.410170413. [DOI] [PubMed] [Google Scholar]
- Navon R., Argov Z., Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet. 1986 May;24(1):179–196. doi: 10.1002/ajmg.1320240123. [DOI] [PubMed] [Google Scholar]
- Specola N., Vanier M. T., Goutières F., Mikol J., Aicardi J. The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. Neurology. 1990 Jan;40(1):145–150. doi: 10.1212/wnl.40.1.145. [DOI] [PubMed] [Google Scholar]