Summary
β-Mannosidosis, an inherited glycoprotein metabolic disorder so far identified only in the caprine species, is characterized by deficiency of β-mannosidase, oligosaccharide accumulation and excretion, neurovisceral cytoplasmic lysosomal storage vacuoles and central nervous system myelin and axonal lesions. In this investigation, transmission electron microscopy was used to study peripheral nerve elements in the gingiva of five affected goats and a control animal. Merkel and Schwann cells were vacuolated. Accumulations of dense bodies distended Merkel cell end plates and free-ending axons in the prickle cell layer as well as Pacinian corpuscle axons, and myelinated, unmyelinated, and demyelinated axons in the lamina propria. Unlike central nervous system myelin paucity, loss of peripheral nerve myelin was exclusively related to axonal dense body accumulation and enlargement. The identification of these lesions may facilitate detection of β-mannosidosis in man and other species.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Arsenio-Nunes ML, Goutieres F, Aicardi J (1981) An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood. Ann Neurol 9:163–172
Brimijoin WS (1982) Abnormalities of axonal transport. Mayo Clin Proc 57:707–714
Burck U, Harzer K, Goebel HH, Elze KL, Held KR, Carstens L (1980) Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. Neuropädiatrie 11:161–174
Cavanagh K, Dunstan RW, Jones MZ (1983) Measurement of caprine plasma β-mannosidase with a p-nitrophenyl substrate. Am J Vet Res 44:681–684
Dolman CL, MacLeod PM, Chang E (1977) Fine structure of cutaneous nerves in ganglioside storage disease. J Neurol Neurosurg Psychiat 40:588–594
Friede RL, Martinez AJ (1970) Analysis of the process of sheath expansion in swollen nerve fibers. Brain Res 19:165–182
Griffin JW, Price DL, Engel WK, Drachman DB (1977) The pathogenesis of reactive axonal swellings: Role of axonal transport. J Neuropathol Exp Neurol 36:214–227
Hartley WJ, Blakemore WF (1973) Neurovisceral storage and dysmyelinogenesis in neonatal goats. Acta Neuropathol (Berl) 25:325–333
Healy PJ, Seaman JT, Gardner IA, Sewell CA (1981) β-Mannosidase deficiency in Anglo Nubian goats. Aus Vet J 57:504–507
Ilyinsky OB, Volkova NK, Cherepnov VL, Krylov BV (1974) Morphofunctional properties of Pacinian corpuscles. In: Iggo A, Ilyinsky OB (eds) Somatosensory and visceral receptor mechanisms. Progress in brain research, vol 43, Elsevier, New York, pp 173–185
Jones MZ, Dawson G (1981) Caprine β-mannosidosis. J Biol Chem 256:5185–5188
Jones MZ, Laine RA (1981) Caprine oligosaccharide storage disease. J Biol Chem 256:5181–5184
Jones MZ, Cunningham JG, Dade AW, Dawson G, Laine RA, Williams CSF, Alessi DM, Mostosky UV, Vorro JR (1982) Caprine β-mannosidosis. In: Desnick RF, Patterson DF, Scarpelli DG (eds) Animals models of inherited metabolic diseases. A R Liss, New York, pp 165–176
Jones MZ, Cunningham JG, Dade AW, Alessi DM, Mostosky UV, Vorro JR, Benitz JT, Lovell KL (1983) Caprine β-mannosidosis: Clinical and pathological features. J Neuropathol Exp Neurol 42:268–285
Lampert PW (1967) A comparative electron microscopic study of reactive, degenerating, regenerating, and dystrophic axons. J Neuropathol Exp Neurol 26:345–368
Libert J (1980) Diagnosis of lysosomal storage diseases by the ultrastructural study of conjunctival biopsies. Soc Pathol Ann 15:37–66
Lovell KL, Jones MZ (1983) Distribution of central nervous system lesions in β-mannosidosis. Acta Neuropathol (Berl) (submitted)
Martinez AJ, Friede RL (1969) Accumulation of axoplasmic organelles in swollen nerve fibers. Brain Res 19:183–198
Matsuura F, Laine RA, Jones MZ (1981) Oligosaccharides accumulated in the kidney of a goat with β-mannosidosis: Mass spectrometry of intact permethylated derivatives. Arch Biochem Biophys 211:485–493
O'Brien JS, Bernett J, Veath ML, Paa D (1975) Lysosomal storage disorders. Arch Neurol 32:592–599
Purpura DP, Highstein SM, Karabelas AB, Walkley SU (1979) Intracellular recording and HRP-staining of cortical neurons in feline ganglioside storage disease. Brain Res 181:446–449
Sipe JC, O'Brien JS (1979) Ultrastructure of skin biopsy specimens in lysosomal storage diseases: Common sources of error in diagnosis. Clin Genet 15:118–125
Spicer SS, Garvin AJ, Wohltmann HJ, Simson JAV (1974) The ultrastructure of the skin in patients with mucopolysaccharidoses. Lab Invest 31:488–502
Tellez-Nagel I, Rapin I, Iwamoto T, Johnson AB, Norton WT, Nitowsky H (1976) Mucolipidosis IV. Arch Neurol 33:828–835
Author information
Authors and Affiliations
Additional information
Supported by grant NS 16886 from the National Institutes of Health to M.Z.J.
Rights and permissions
About this article
Cite this article
Malachowski, J.A., Jones, M.Z. β-Mannosidosis: Lesions of the distal peripheral nervous system. Acta Neuropathol 61, 95–100 (1983). https://doi.org/10.1007/BF00697387
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00697387