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Probable Olivopontocerebellar Degeneration) J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.34.1.14 on 1 February 1971. Downloaded from J. Neurol. Neurosurg. Psychiat., 1971, 34, 14-19 L-Dopa in Parkinsonism associated with cerebellar dysfunction (probable olivopontocerebellar degeneration) HAROLD L. KLAWANS, JR. AND EARL ZEITLIN From the Department of Neurology, Rush Presbyterian-St. Luke's Medical Center, Chicago, Illinois 60612, USA SUMMARY Two patients with combined cerebellar and Parkinsonian features consistent with olivopontocerebellar degeneration were treated with long term oral L-dopa. Both patients showed improvement of the Parkinsonian symptoms but the cerebellar symptoms were unchanged. It is suggested that the Parkinsonian manifestations of this syndrome are related to loss of dopamine in the striatum secondary to lesions of the substantia nigra. It is suggested that other patients with be a trial with similar disorders should given L-dopa. guest. Protected by copyright. Olivopontocerebellar degeneration was first defined familial form of degeneration with onset between by Dejerine and Thomas (1900). They described the ages of 20 to 30, while they had described a two patients who developed progressive cerebellar sporadic form with onset at a later age. Since the dysfunction. In both instances the onset was in original description of this disease, other investi- middle age, beginning in the legs and later involving gators have described hereditary forms of olivo- the arms. The post-mortem examination of the pontocerebellar degeneration. Keiller (1926) brains or these patients revealed atrophy of the described four cases of olivopontocerebellar de- cerebellar cortex, bulbar olives, and pontine gray generation who had positive hereditary histories. matter with degeneration of the middle and inferior Three of these cases were verified on post-mortem cerebellar peduncles. There was no evidence of examination. Yang, Ling, and Chang (1938) have sclerosis or inflammation. Dejerine and Thomas reported the familial occurrence of this disease over attributed the clinical picture of progressive cerebel- five generations. Many other cases have been lar ataxia to the combined degenerative changes reported since then with and without pathological involving olives, cerebellum, and pons and gave the verification. Brown (1962) has concluded that many name olivopontocerebellar degeneration to this of the cases in the literature reported to be 'Marie's entity. Although subsequent patients have often hereditary ataxia' are actually olivopontocerebellar had additional symptoms, progressive cerebellar degeneration. It appears that, contrary to the original http://jnnp.bmj.com/ ataxia and intention tremor remain the unifying description, olivopontocerebellar degeneration is clinical manifestations of this disease. frequently hereditary and, in fact, is one of the D6jerine and Thomas were unable to find any spinocerebellar degenerations in which familial hereditary basis for this disease in the two patients occurrence is common. they studied; however, there is now strong evidence The current concept of the pathology of olivo- that olivopontocerebellar degeneration is frequently pontocerebellar degeneration has been outlined by familial. Sanger Brown (1892) had previously re- Brown (1962) who describes diminution in the size of ported familial cerebellar degeneration with spinal the pons, medulla, and cerebellum with extensive on September 28, 2021 by cord involvement. Marie (1893) differentiated these degeneration of the inferior olives and basal pontine cases from Friedreich's ataxia and felt that they nuclei with secondary gliosis. He also describes were related to familial cerebellar atrophy. Marie demyelinization of the cerebellar white matter with had not been able to document the pathology in these degeneration of Purkinje and ganglion cells. cases. Dejerine and Thomas felt that Marie's ataxia Critchley and Greenfield (1948) have described a was different from their concept of olivoponto- 'tendency towards degeneration of other nuclei cerebellar degeneration. Marie had described a andfibretracts subserving movement, but not directly 14 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.34.1.14 on 1 February 1971. Downloaded from L-Dopa in Parkinsonism associated with cerebellar dysfunction 15 connected with the cerebellum, e.g. dorsal columns the clinical manifestations of Parkinsonism in and pyramidal tracts, substantia nigra, corpus olivopontocerebellar degeneration, both hereditary luysii, and lenticular nucleus.' The findings of nigral and sporadic types (Ley, 1924; Guillain, Mathieu, and basal ganglia involvement in olivoponto- and Bertrand, 1926; Guillain, Thdvenard, and cerebellar degeneration, although not universally Jonesco, 1928; Guillain and Thevenard, 1931). present, have been reported frequently. Scherer The significance of the nigral involvement in (1933) in his report of four instances of olivoponto- olivopontocerebellar degeneration and of the clinical cerebellar degeneration noted regular changes in the appearance of Parkinsonism in this disorder is substantia nigra and basal ganglia. These included supported by two other observations. Olivoponto- marked depigmentation of the substantia nigra cerebellar degeneration was discovered coincident- which he related to a 'local presenile aging process'. ally in patients who were studied because of Lambie, Latham, and McDonald (1947) have re- progressive extrapyramidal symptoms. Adams, van ported significant involvement of the substantia Bogaert, and Vander Eecken (1964) have reviewed nigra, caudate, putamen, and globus pallidus, as the four known instances of striato-nigral degener- well as the regular features of olivopontocerebellar ation, a rare entity in which extrapyramidal signs degeneration. Jellinger (1968) has reported a series are prominent. One of the patients was a 51-year-old of 15 cases of olivopontocerebellar degeneration in woman with a negative family history who developed which there was frequent involvement of the sub- progressive rigidity, bradykinesia, masked facies, stantia nigra. He described striatal degeneration and rest tremor. Later she developed ataxia and including severe demyelinizition of the putamen intention tremor of the arms and legs before with complete loss of large neurones and dense expiration. On post-mortem examination the find- gliosis associatedwithminor damage to the pallidum ings were those of striatonigral degeneration plus guest. Protected by copyright. as well as involvement of the reticular zone of the olivopontocerebellar degeneration. Greenfield and substantia nigra. Bosanquet (1953) have reviewed the brain-stem From these studies of post-mortem material it lesions in Parkinsonism. They related the specific appears that the substantia nigra and areas of the aspects of nigral pathology to the categories of cases basal ganglia are frequently involved. Since alter- they reported, including 19 cases with idiopathic ations of the substantia nigra are felt to be the single Parkinson's disease, 10 cases with Parkinsonism most important lesion in the production of Parkin- with a history of encephalitis between 1918 and sonism (Greenfield and Bosanquet, 1953; Klawans, 1924, and five cases with Parkinsonism of uncertain Ilahi, and Shenker, 1970), it would not be surprising aetiology. The post-mortem examination of one of if some patients with olivopontocerebellar degener- these diagnosed as Parkinsonism of uncertain ation had Parkinsonian features. aetiology revealed the findings of olivoponto- Extrapyramidal symptoms have been described in cerebellar degeneration with cell loss of the sub- numerous patients. Dejerine and Thomas (1900) as stantia nigra. This particular case had been reported well as Marie (1893) mentioned rigidity as one of earlier as an instance of olivopontocerebellar the minor symptoms of the syndrome. Von Stauffen- degeneration by Critchley and Greenfield (1948). berg (1918) reported extrapyramidal symptoms in Before death the patient had a progressive cerebellar his case report of olivopontocerebellar degeneration. ataxia of five years' duration and Parkinsonism for Scherer (1933) later recognized the relationship one year. between Parkinsonism and nigral involvement in Olivopontocerebellar degeneration most often http://jnnp.bmj.com/ patients with olivopontocerebellar degeneration. He presents as a progressive cerebellar ataxia. However, reported four patients who developed a combined it is clear that the substantia nigra is frequently syndrome of Parkinsonism (progressive rigidity, involved in this disease. This involvement manifests masked facies) and cerebellar dysfunction (severe itself as Parkinsonism. The Parkinsonian mani- difficulty in coordination). On post-mortem exam- festations can be mild or can dominate the clinical ination the findings were those of olivoponto- picture. The combined occurrence of Parkinsonism cerebellar degeneration with marked depigmentation and cerebellar symptoms raises the question as to of the substantia nigra as well as changes in the whether the mixed syndrome is the manifestation of on September 28, 2021 by basal ganglia. Messing (1930) reported on a 62-year- a single pathological entity (olivopontocerebellar old woman who had a 'classic case of Parkinson's degeneration including nigral involvement) or the Disease, although the signs of hypertonia and tremor coincidental occurrence of two separate entities. The were not striking'. The post-mortem examination fact that progressive
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