Olivopontocerebellar atrophy (OPCA) is a progressive disease, the sporadic form of which is now known as multiple system atrophy with cerebellar features (MSA-C), a subtype of multiple system atrophy (MSA). Its etiology is unknown. The inherited form of OPCA does not follow a single inheritance pattern which is, although, frequently autosomal dominant. Patients who present with the inherited form may have evidence of the illness in their family history. OPCA usually occurs in the middle aged, but the inherited form may develop in younger individuals. It rarely transpires after the seventh decade of life [1].

OPCA results from atrophy of structures in the brainstem and the cerebellum, thus its symptomatology is based on the dysfunction of these areas. There are several systems affected by OPCA, and the severity of symptoms worsens as the disease progresses. Autonomic dysregulation, if present, includes postural hypotension and gastrointestinal upset [2]. Genitourinary complaints range from urinary symptoms such as retention or incontinence to sexual dysfunction [3]. Pain may be experienced by a minority of patients.

Neurological symptoms and signs include worsening ataxia (one of the earliest signs), dysarthria, uncoordinated limb movements, unstable gait, hyperactive reflexes, and additional pyramidal as well as extrapyramidal manifestations [4]. Signs of parkinsonism such as cogwheel rigidity, postural instability, and tremor may be observed as the disease progresses. In addition, cognitive impairment and neuropathy have been reported.

Ocular dysfunction has been described, in the form of nystagmus, abnormal saccadic eye movements, as well as eye pathologies such as retinopathy [1]. Patients may experience dysphagia and recurrent laryngeal nerve paralysis, which causes stridor and can be rapidly fatal [5]. They are also at risk of aspiration, malnutrition, and traumatic injury from falls.

Patients with OPCA are prone to a number of sleep disturbance disorders such as rapid eye movement (REM) sleep behavior disorder RBD [6]. Furthermore, they have an increased susceptibility to psychiatric conditions such as depression and dementia.

• Fatigue

  Very soon after beginning treatment for Multiple System Atrophy(MSA), Albert's coughing and choking while trying to drink were relieved, as was his muscle stiffness and fatigue. [puhuahospital.com]

  Some patients also have fatigue and/or trouble with sleep. Generally symptoms of OPCA begin in mid-adult life and progress slowly over the course of many years. You can read more about hereditary and sporadic OPCA/ataxia. [alyshia.com]

  […] v zxPS0UVCKzg Fact Sheets In 2015, the Multiple System Atrophy Trust in the UK published 25 fact sheets on topics such as bowel management, continence, fatigue, Parkinson’s medications, monitoring blood pressure, saliva, driving, and useful equipment [brainsupportnetwork.org]

  gait training, transfer training, balance activities, and conditioning are necessary in reaching the goal of minimizing fatigue and risk for falling (safe transfers, etc.) [4] Resistance training has been proven to be effective in patients with MSA [physio-pedia.com]

• Proximal Muscle Weakness

  The 68-year-old male patient displayed various clinical symptoms including progressive proximal muscle weakness, muscle atrophy and muscle fasciculation with a long course of disease. [ncbi.nlm.nih.gov]

• Auditory Hallucination

  She also had auditory hallucinations. MRI revealed hypointense T2 signals in the putamina and substantia nigra. T1-weighted MRI demonstrated atrophy of both the pons and cerebellum in addition to atrophy of the putamina and substantia nigra. [ncbi.nlm.nih.gov]

• Nocturnal Polyuria

  We report a case of olivopontocerebellar atrophy without sleep apnea syndrome who presented nocturnal polyuria. [ncbi.nlm.nih.gov]

• Cerebellar Ataxia

  Middle-aged patients who initially present with a progressive cerebellar ataxia, in the absence of a known familial pattern are often referred to under the descriptive diagnosis of 'idiopathic' late onset cerebellar ataxia. [ncbi.nlm.nih.gov]

  Shoji Tsuji, Idiopathic Late Onset Cerebellar Ataxia (ILOCA), and Cerebellar plus Syndrome, Handbook of the Cerebellum and Cerebellar Disorders, 10.1007/978-94-007-1333-8_98, (2143-2150), (2013). [doi.org]

  Treatment of cerebellar ataxia with 5-HT1A agonist. Cerebellum. 2005. 4(3):211-5. [Medline]. Ogawa M. Pharmacological treatments of cerebellar ataxia. Cerebellum. 2004. 3(2):107-11. [Medline]. [emedicine.com]

• Tremor

  Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. [ninds.nih.gov]

  This may include: Tremor medicines, such as those for Parkinson disease Speech, occupational and physical therapy Ways to prevent choking Walking aids to help with balance and prevent falls MSA-C slowly gets worse, and there is no cure. [nlm.nih.gov]

  These were characterized by the co-existence of rhythmic skeletal myoclonus and parkinsonian tremor. [ncbi.nlm.nih.gov]

• Nystagmus

  There was no pathologic nystagmus or saccadic dysmetria. Magnetic resonance imaging showed cerebellar and lower brainstem atrophy virtually diagnostic of olivopontocerebellar atrophy. [ncbi.nlm.nih.gov]

  Additional features of MSA-c include dysphonia, dysphagia and other cerebellar features including limb ataxia and occulomotor dysfunction (sustained gaze-evoked nystagmus, positional down-beat nystagmus). [orpha.net]

  Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. [ucl.ac.uk]

• Cerebellar Disease

  These findings suggest important pathophysiological roles of cerebellin and CRH in these cerebellar diseases. Such significant decreases were not found in neuropeptide Y and somatostatin. [ncbi.nlm.nih.gov]

  Within the cerebellar diseases (CRB_ATX), even though SCAs presented with the lowest levels of CoQ10, this reduction was still not statistically significant when compared to the control group ( Table 2B ). [journals.plos.org]

Diagnosis of olivopontocerebellar atrophy (OPCA) entails:

• History: A family history of OPCA should be inquired as well as a history of symptoms experienced by the patient.
• Physical examination: This should include a thorough neurological exam.
• Genetic testing: The aid in the distinction between sporadic and hereditary OPCA.
• Imaging: This mostly consists of magnetic resonance imaging (MRI) scans, which may show signs of brain atrophy. A common sign is the "hot cross bun sign", which is present in over 80% of those with sporadic OPCA [7]. T2-weighted MRI, diffusion-weighted imaging (DWI), and diffusion tensor imaging (DTI) are the MRI techniques utilized [1].
• Further testing: This includes tests done to rule out other possible etiologies of the presenting symptoms.

• Pericardial Effusion

  Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. [ncbi.nlm.nih.gov]

Treatment There is no specific treatment for OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. [ninds.nih.gov]

CONCLUSIONS: Buspirone treatment showed feasible efficacies for OPCA, while the combined treatment of estrogen and buspirone failed to improve, suggesting estrogen may not have further benefit in cerebellar dysfunction. [ncbi.nlm.nih.gov]

Is there any treatment? There is no specific treatment for OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. [web.archive.org]

Treatment programs should be frequently monitored and adjusted based on a patient's progress. [en.wikipedia.org]

Prognosis There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset. x Prognosis There is no cure for OPCA. [ninds.nih.gov]

Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. [ncbi.nlm.nih.gov]

Treatment can include medications for specific symptoms, therapy to help with speech and balance, and use of walking aids The prognosis for Hereditary Olivopontocerebellar Atrophy is generally poor as the central nervous system deterioration leads to [dovemed.com]

Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. [ncbi.nlm.nih.gov]

Etiology The exact etiology of MSC-c is unknown while the presence of cytoplasmic aggregates of α-synuclein, primarily in the oligodendroglia, in combination with predominant neurodegeneration of the olivopontocerebellar structures are pathological hallmark [orpha.net]

Further testing: This includes tests done to rule out other possible etiologies of the presenting symptoms. [symptoma.com]

Our review suggests that the label “OPCA” is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. 2006 Movement Disorder Society [doi.org]

Etiology is unknown A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (lb)-like intraneuronal inclusions and neurofibrillary tangles Spastic weakness of the muscles innervated by the cranial nerves [icd9data.com]

For a discussion of epidemiology and pathology, please refer to: multiple systemic atrophy (MSA). Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs. [radiopaedia.org]

Summary Epidemiology MSA-c is observed predominantly in patients from Asia. [orpha.net]

Epidemiology Frequency The prevalence of OPCA is 3–5 cases per 100,000 individuals; this may represent approximately 5–6% of patients diagnosed with atypical Parkinson disease. [emedicine.com]

The pathophysiology of blepharospasm appears to involve an increased excitability of the interneurons of the blink and corneal reflexes. [ncbi.nlm.nih.gov]

The aim is to treat the symptoms and prevent complications. [nlm.nih.gov]

Treatments and therapies are available to help manage symptoms of CBS, however there is no cure or ways to prevent it from occurring or slow its progression. [parkinsonsvic.org.au]

The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. [web.archive.org]

1. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71(9):670–676.
2. Wenning GK, Ben-Shlomo Y, Magalhães M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain. 1994;117(Pt 4):835–845.
3. Kirchhof K, Apostolidis AN, Mathias CJ, Fowler CJ. Erectile and urinary dysfunction may be the presenting features in patients with multiple system atrophy: a retrospective study. Int J Impot Res. 2003;15(4):293–298.
4. Iodice V, Lipp A, Ahlskog JE, et al. Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. J Neurol Neurosurg Psychiatry. 2012;83(4):453–459.
5. Isozaki E, Naito A, Horiguchi S, Kawamura R, Hayashida T, Tanabe H. Early diagnosis and stage classification of vocal cord abductor paralysis in patients with multiple system atrophy. J Neurol Neurosurg Psychiatry. 1996;60(4):399–402.
6. Shimohata T, Nakayama H, Tomita M, Ozawa T, Nishizawa M. Daytime sleepiness in Japanese patients with multiple system atrophy: prevalence and determinants. BMC Neurol. 2012;12:130.
7. Watanabe H, Saito Y, Terao S, et al. Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients. Brain. 2002;125(Pt 5):1070–1083.