Discussion Author(s): Duy T Hoang
The patient was seen by neurologist since 2007 with progressive gait dysfunction/instability, parkinsonism, increase tone, and cerebellar dysfunction that had worsen over the past year. Patient history show that patient currently is wheelchair bound, unable to talk on the phone due to dysarthria, and needs help with dressing, cooking, and bathing. Her MRI over the 4 years period show progressive atrophy of both cerebellar hemispheres and the vermis, flattening and atrophy of the pons with no evidence of cerebral atrophy. Plans for patient included continues supportive treatment, PT/OT with repeat MRI.
Olivopontocerebellar atrophy (OPCA) is a rare and chronic neurodegenerative disease characterized by prominent cerebellar sign, dysarthria, and dysphagia. It was first described by Nicolaus Friedreich in 1800s asFriedreich ataxia, a clinical entity that is separate from multiple sclerosis and neurosyphilisis. The term OPCA evolved over time with the help of Holmes, Dejerinene, and Thomas that identified cases with purely cerebellar problems with evidence of brain stem pathology.
The cause of OPCA are unclear, however, we do know that it occurs both in sporatic forms and familial form. In sporatic cases, abnormal trypsin synuclein seem to play significant role. In inherited cases, specific genes have been identified, although the pathological influence of the abnormal genes is not known. Therefore, OPCA differentiate from other forms of cerebellar ataxia is base on clinical observation and neuroimaging. On gross anatomy level, common characteristic included diminutive pons with degeneration of the cerebellum especially in the white matter. Histologically, loss of Purkinje cells is common. Further major neurons loss is seen in the inferior olives, arcuate, and pontine nuclei can be seen. The dentate nuclei are well preserved.
There is no racial preference is seen with OPCA. Male-to-female ratio is 2:1 and the mean age of onset is 53 years old. Clinical findings can included dysphagia, dysarthria, with dementia and sleep disturbances. Generally, physical findings commonly showed cerebellar and extrapyramidal signs. Ophthalmoplegia, retinopathy, and parkinsonism may be present. Typically, manifestation began with broad-based cerebellar ataxic gait then progress to the upper extremities and the bulbar muscles. Other cerebellar finding included nystagmus, dysmetria, and ataxia on heal-to-shin test. Parksonism may occurs concurrently with OPCA in some cases which make distinguishing between the two more difficult.
Work up can included anti-Purkinje cell antibodies, genetic testing, and Vitamine E level. However, since OPCA is a clinical diagnosis, series imaging is the prefer study. MRI is the modality of choice. Finding typically shows pancerebellar and brain-stem atrophy, with flattening of the pons; en enlarged fourth ventricle and cerbellopontine angle and demyelination of the transverse pontine fibers. Monitor the patient over time can lead to significant evidence in making the diagnosis.
Prognosis are poor since currently there is no definitive treatment for OPCA. As the disease progress, patients can become wheelchair bound, severe dysarthria, anarthria, and dysphagia. Death usually results from aspiration pneumonia. Treatment therefore is supportive.
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