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Olivopontocerebellar Atrophy

Atrophy Olivo Ponto Cerebellar

Olivopontocerebellar atrophy is a neurodegenerative syndrome that arises spontaneously or through familial inheritance. This disease manifests as a part of other disorders, namely multiple system atrophy (MSA) and spinocerebellar ataxia (SCA).


Presentation

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]
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]
  • Evidence of atrophy did not correlate with either the duration of illness or the severity of cerebellar ataxia in both the groups.[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]
  • Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement.[ncbi.nlm.nih.gov]
  • In addition to cerebellar ataxia, these children also had sensorineural deafness and speech impairment. Of the present cases, 8 were sporadic and the pedigree patterns in 3 (with a sibling also involved) point to an AR inheritance.[ncbi.nlm.nih.gov]
Tremor
  • Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication.[ninds.nih.gov]
  • These were characterized by the co-existence of rhythmic skeletal myoclonus and parkinsonian tremor.[ncbi.nlm.nih.gov]
  • The presence of cerebellar ataxia, limb tremors, muscle atrophy and weakness in the patient led to the diagnosis of sOPCA that was confirmed by the MRI results.[ncbi.nlm.nih.gov]
  • A Japanese woman without a remarkable family history showed hand tremor at the age of 35 years, followed by bradykinesia, muscle rigidity, orthostatic hypotension, neurogenic bladder and pyramidal signs. No obvious cerebellar symptoms were found.[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]
  • OPCA patients with severe cerebellar HMPAO uptake deficiency on single photon emission computed tomography scans had poorer performances on three of the four subscores (static equilibrium, dynamic equilibrium and nystagmus, and motor speed) than patients[ncbi.nlm.nih.gov]
  • For the clinical rating, International Cooperative Ataxia Rating Scale (ICARS) was used and dysarthria, gaze evoked nystagmus, finger to nose, pronation-supination alternating movement, knee-tibia test, and gait speed were evaluated for 12 months.[ncbi.nlm.nih.gov]
  • Ocular dysfunction has been described, in the form of nystagmus, abnormal saccadic eye movements, as well as eye pathologies such as retinopathy.[symptoma.com]
  • 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]

Workup

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.

Treatment
  • 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]
  • Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.[ncbi.nlm.nih.gov]
  • Treatment programs should be frequently monitored and adjusted based on a patient's progress.[en.wikipedia.org]

Prognosis
  • 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]
  • CONCLUSIONS: Approximately one-fourth of sporadic olivopontocerebellar atrophy patients will evolve to multiple system atrophy within 5 years, and this transition carries a poor prognosis for survival.[ncbi.nlm.nih.gov]
  • Conclusions: Approximately one-fourth of sporadic olivopontocerebellar atrophy patients will evolve to multiple system atrophy within 5 years, and this transition carries a poor prognosis for survival.[neurology.org]

Etiology
  • 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.[ncbi.nlm.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. 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]
  • 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]

Epidemiology
  • 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]
Sex distribution
Age distribution

Pathophysiology
  • The pathophysiology of blepharospasm appears to involve an increased excitability of the interneurons of the blink and corneal reflexes.[ncbi.nlm.nih.gov]
  • 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]
  • CONCLUSIONS: We considered that these findings reflect the pathophysiology of ataxic gait in OPCA patients and the compensatory mechanism for the instability during ataxic gait.[ncbi.nlm.nih.gov]
  • The regionally widespread amino acid reductions in the brain, of as yet unknown pathophysiological significance, could be due to a failure of one or more enzymes involved in aspartate and glutamate metabolism.[ncbi.nlm.nih.gov]
  • Furthermore, this study suggests that platelet GDH determination in patients with OPCA may provide a simple and useful tool to classify these disorders and to understand the basic pathophysiological mechanisms involved.[ncbi.nlm.nih.gov]

Prevention
  • 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]
  • Therapy is aimed at treating symptoms and preventing complications. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • The aim is to treat the symptoms and prevent complications.[nlm.nih.gov]
  • Patient may also be recommended various other modes of treatment such as occupational therapy, physical therapy that will help to keep the balance of his body and prevent falls.[tandurust.com]

References

Article

  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.

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Last updated: 2019-07-11 20:18