Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy' (CADASIL) has recently been identified as a hereditary disorder with characteristic fine structural changes of small intracerebral arteries and arterioles. Electron microscopically there are characteristic perivascular deposits of granular electron-dense material resembling immunoglobulin deposits. The present case from a family with four affected members in three successive generations shows that similar vascular changes as described in the central nervous system are present in blood vessels of the sural nerve, although less pronounced and, therefore, affording electron microscopy for their unequivocal detection. Nevertheless it has been shown for the first time that the diagnosis of CADASIL can be verified by a sural nerve biopsy. Occasional focal accumulation of pinocytotic vesicles opposite the granular deposits suggests exocytosis as one of the possible pathomechanisms for their production.
References
Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG (1993) Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 24: 122–125
Barnes MJ (1985) Collagens in atherosclerosis. Collagen Rel Res 5: 65–97
Berthier E, Broussolle E, Garcia-Jacquier M, Tommasi M, Chazot G (1992) Leucoencephalopathie artériopathique juvénile: étude anatomoclinique d'un cas. Rev Neurol (Paris) 148: 146–149
Bousser MG, Tournier-Lasserve E (1994) Summary of the Proceedings of the First International Workshop on CADASIL Stroke 25: 704–707
Davous P, Fallet-Bianco C (1991) Démence sous-corticale familiale avec leucoencéphalopathie artériopathique. Observation clinico-pathologique. Rev Neurol (Paris) 147: 376–84
Dieler R, Schröder JM, Reddemann K (1990) Electron-dense lipidic capillary deposits in Rett syndrome. Acta Neuropathol 79: 573–578
Estes ML, Chimowitz MI, Awad IA, McMahon MT, Furlan AJ, Ratliff NB (1991) Sclerosing vasculopathy of the central nervous system in nonelderly demented patients. Arch Neurol 48: 631–636
Ghadially FN (1988) Ultrastructural pathology of the cell and matrix, 3rd edn. Butterworth: London, pp 1252–1303
Gray F, Robert F, Labrecque R, Chrétien F, Baudrimont M, Fallet-Bianco C, Mikol J, Vinters HV (1994) Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol 20: 22–30
Grehl H, Schröder JM (1991) Significance of degenerating endoneurial cells in peripheral neuropathy. Acta Neuropathol 81: 680–685
Gutiérrez-Molina M, Caminero Rodríguez A, Martínez García C, Arpa Gutíerrez J, Moralez Bastos C, Amer G (1994) Small arterial granular degeneration in familial Binswangers syndrome. Acta Neuropathol 87: 98–105
Maeda S, Nakayama H, Isaka K, Aihara Y, Nemoto S (1976) Familial unusual encephalopathy of Binswanger's type without hypertension. Folia Psychiatr Neurol Jpn 30: 165–177
Mas JL, Dilouya A, De Recondo J (1992) A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy. Neurology 42: 1015–1019
Salvi F, Michelucci R, Plasmati R, Parmeggiani L, Mascalchi M, Tassinari CA (1992) Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan. Ital J Neurol Sci 13: 135–140
Schröder JM (1986) Proliferation of epineurial capillaries and smooth muscle cells in angiopathic peripheral neuropathy. Acta Neuropathol (Berl) 72: 29–37
Schröder JM, Sommer C (1991) Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and nonhereditary neuropathies, and review of the literature. Acta Neuropathol 82: 471–482
Schröder J; Sellhaus B, Jörg J (1994) Erstmalige Diagnose der “cerebralen autosomal dominanten Arteriopathie mit subcorticalen Infarkten und Leukoencephalopathie” (CADASIL) aus einer Nervenbiopsie. Verh Dtsch Ges Neurol 9: (in press)
Sonninen V, Savontaus ML (1987) Hereditary multi-infarct dementia. Eur Neurol 27: 209–215
Sourander P, Wålinder J (1977) Hereditary multi-infarct dementia. Acta Neuropathol (Berl) 39: 247–254
Sourander P, Wålinder J (1977) Hereditary multi-infarct dementia. Lancet I: 1015
Stevens DL, Hewlett RH, Brownell B (1977) Chronic familial vascular encephalopathy. Lancet I: 1364–1365
Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG (1991) Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 22: 1297–1302
Tournier-Lasserve E, Joutel A, Melki J, et al. (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nature Genet 3: 256–259
Yokoi S, Nakayama H (1985) Chronic progrossive leukoencephalopathy with systemic arterioslerosis in young adults. Clin Neuropathol 4: 165–173
Zhang WW, Chun Ma K, Andersen A, Sourander P, Tollesson PO, Olsson Y (1994) The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol 87: 317–324
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Schröder, J.M., Sellhaus, B. & Jörg, J. Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol 89, 116–121 (1995). https://doi.org/10.1007/BF00296354
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DOI: https://doi.org/10.1007/BF00296354