Summary
Eight Japanese patients with Joseph disease were studied using computed tomography (CT). Morphometric analysis using the two-dimensional (area) measurement by CT was performed in the infratentorial region. The brain-stem index, an index of brain-stem atrophy or pontine atrophy, revealed a significant decrease (P<0.01), with a mean of 66.7% when compared with 16 control subjects. The patients showed a significant increase (P<0.01), with a mean of three times that of the controls in the fourth ventricular index, an index of fourth ventricular dilatation. There were no differences in the cerebellar index, an index of cerebellar atrophy, between these patients and the controls, although the patients had an increased number of visible cerebellar vermian (2.0, SD 0.7) and hemispheric sulci (2.6, SD 0.6) as compared with the controls (vermian sulci: 0.4, SD 0.7; hemispheric sulci: 0). These data indicate severe pontine atrophy, fourth ventricular dilatation with mild involvement of the cerebellum and correlate well with the common pathological features of Joseph disease. The present morphometric evaluation by CT may be useful in the clinical diagnosis of Joseph disease.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Diener HC, Müller A, Thron A, Poremba M, Rapp H (1986) Correlation of clinical signs with CT findings in patients with cerebellar disease. J Neurol 233:5–12
Fukutani Y (1986) Morphometric study in human cerebellar dentate nucleus: with reference to normal subjects and cases of cerebellar degenerative diseases. Neuropathology 7:277–302
Healton EB, Brust JCM, Keer DL, Resor S, Penn A (1980) Presumably Azorean disease in a presumably non-Portuguese family. Neurology 30:1084–1089
Huang YP, Plaitakis A (1984) Morphological changes of olivopontocerebellar atrophy in computed tomography and comments on its pathogenesis. In: Duvoisin RC, Plaitakis A (eds) The olivopontocerebellar atrophies. Raven Press, New York, pp 39–85
Ikeda T (1987) Peculiar forms of familial olivo-ponto-cerebellar atrophy (Menzel type) and Joseph disease: clinico-neuro-pathological study of two families with nosological considerations. Psychiatr Neurol Jpn 89:245–281
Jain S, Maheshwari MC (1990) Eight families with Joseph's disease in India. Neurology 40:128–131
Kanda T, Isozaki E, Kato S, Tanabe H, Oda M (1989) Type III Machado-Joseph disease in a Japanese family: a clinico-pathological study with special reference to the peripheral nervous system. Clin Neuropathol 8:134–141
Kogure T, Oda T, Katoh Y (1990) Autopsy cases of hereditary ataxia pathologically diagnosed as Japanese type of Joseph disease: clinico-pathological findings. Psychiatr Neurol Jpn 92:161–183
Lima L, Coutinho P (1980) Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 30:319–322
Nakano KK, Dawson DM, Spence A (1972) Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 22:49–55
Pedersen L, Gyldensted C (1978) Computed tomography in hereditary ataxias. Acta Neurol Scand 58:81–88
Ramos A, Quintana F, Diez C, Leno C, Berciano J (1987) CT findings in spinocerebellar degeneration. Am J Neuroradiol 8:635–640
Riku S, Sugimura K, Mutoh T, Matsuoka Y, Takahashi A (1987) A clinico-pathological study of “Machado-Joseph disease”. Clin Neurol 27:1203–1210
Rosenberg RN, Nyhan WL, Bay C, Shore P (1976) Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26:703–714
Sakai T, Ohta M, Ishino H (1983) Joseph disease in a non-Portuguese family. Neurology 33:74–80
Woods BT, Schaumburg H (1972) Nigrospinodentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J Neurol Sci 17:149–166
Yamamoto H, Konagaya M, Murakami N, Takayanagi T, Sobue I (1980) Computed tomography in spinocerebellar degenerations. Clin Neurol 20:539–546
Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, Atsumi T, Miyatake T (1985) Joseph's disease: clinical and pathological studies in a Japanese family. Ann Neurol 19:15–157
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fukutani, Y., Katsukawa, K., Ishizaki, Y. et al. Brain stem atrophy in joseph disease: a morphometric study using two-dimensional (area) measurement by computed tomography. J Neurol 238, 191–194 (1991). https://doi.org/10.1007/BF00314778
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00314778