The information below is directed to patients and caregivers. More detailed information, with more medical terminology, is available by clicking the individual disorders below.
Progressive Supranuclear Palsy (PSP)
Cortical Basal Degeneration (CBD)
Progressive Supranuclear Palsy (PSP)
This is a drug resistant Parkinsonism. It is characterized by the inability to move the eyes up and down, neck dystonia (a peculiar posturing of the neck causing the head to be fixed skyward), dysphagia (difficulty swallowing) and dysarthria (difficulty speaking), and a tendency to suddenly lose balance, resulting in frequent falls early in the course of the disease.
The facial expression may take on a surprised look with elevation of the eyebrows.
Early symptoms are often vague and include mild disequilibrium with slowing, easy fatigability, minor personality changes and subtle visual symptoms such as blurring or double vision. With disease progression, walking becomes slow and deliberate with broad-based steps and progressive loss of balance. The facial expression is fixed and associated with frowning, and problems with eye blinking can occur.
Loss of memory and other problems with concentration is frequent. Tremor is rare. Common personality changes are apathy, depression and irritability.
Complaints often associated with the problem moving the eyes up or down include the inability to read, write, eat properly, or dress. Going down stairs can be very difficult. In advanced stages the eyes may not move at all. As the disease progresses, falling becomes more frequent, often without warning. Swallowing often becomes the major problem putting the patient at risk of choking and developing pneumonia. Dementia develops in all and much earlier than expected.
This diagnosis is made on the basis of the clinical findings in the office neurologic examination. The characteristic eye movement problem and shrinkage of the brainstem on an MRI scan can confirm the diagnosis.
Multiple System Atrophy (MSA)
This group of disorders includes what used to be called:
- Olivopontocerebellar Atrophy (OCPA)
- Striato-Nigral Degeneration (SND)
- Shy-Drager syndrome (SDS)
The Multi-System Atrophies are a group of progressive neurodegenerative disorders that early on can mimic, or be mistaken for, Parkinson’s Disease. This diagnosis is often made only after patients fail to improve with medication or develop atypical features.
In Parkinson’s disease only one main group of nerve cells die at an abnormally fast rate. These cells produce Dopamine, a neuro-chemical that stimulates parts of the brain responsible for movement. Without dopamine “like a motor without oil”, the body slows, stiffens, and can start to shake. In Parkinson’s Disease replacing dopamine in pill form results in improved mobility. In the Multi-System Atrophies, a variety of groups of nerve cells die off. The cells that dopamine stimulates are involved. In this situation the “motor is damaged and just putting more oil in doesn’t usually help”. Thus dopamine replacement doesn’t resolve the many problems associated with these disorders.
Although early on these disorders may be difficult for doctors to tell apart, as time goes on they develop certain distinguishing features. They all share the unfortunate characteristic of responding poorly to anti-Parkinson’s medications.
MSA-A = Parkinson’s + severe autonomic dysfunction (previously called Shy-Drager syndrome)
- In addition to the nervous system responsible for movement, there is a nervous system responsible for automatic body functions (the autonomic nervous system). The autonomic nervous system looks after the regulation of blood pressure, heart rate, temperature, and sweating, along with control of the urinary bladder and sexual function. Shy Drager syndrome is a problem with a failure of the autonomic nervous system together with parkinsonism.
- This disorder is twice as common in males than females and life expectancy is 7 to 10 years. It usually begins after age 50.
- Patients may present with rigidity, masked facies, resting tremor, bradykinesia, loss of balance, dysarthria and dysphagia, emotional lability (uncontrollable emotions) and a shuffling gait. They may respond temporarily to anti-parkinsonian medication, but problems with the urinary bladder (urinary urgency and retention) and sexual function (impotence) become evident. Inability to maintain blood pressure results in very low blood pressure particularly after meals. This can result in fainting or just weakness, poor concentration, headaches, blurred vision and confusion. Medications for Parkinson’s may induce or aggravate the low blood pressure.
- Medications are available to attempt to improve the low blood pressure. Pressure stockings for the legs as well as increased dietary salt can help.
MSA-C = Parkinson’s + dysfunction of the cerebellum (previously called Olivo-ponto-cerebellar atrophy)
- This is a progressive parkinsonism associated with “ataxia” (unsteadiness and lack of coordination) usually beginning in middle age with generalized slowing, loss of coordination and tremor. Disturbances in speech, and eye movements occur as well.
- MSA-C may present with muscular rigidity, resting tremor, slowness of muscle movement, a fixed facial expression and a shuffling gait which are typical of Parkinson’s.
- Most patients become wheelchair bound within a few years of onset. Dysarthria (difficulty speaking) is a symptom in almost every case; it is frequently an early sign and is at times so severe that speech becomes unintelligible. Swallowing can also become a major problem putting the patient at risk of choking and developing pneumonia.
- The presence of ataxia mixed with parkinsonism, features on an MRI scan (shrinkage of the brainstem and cerebellum) and failure to respond to anti-Parkinson’s medication help in diagnosing this disorder. This disorder can be inherited.
MSA-P = a mimic to Parkinson’s disease but poor response to medications (previously called striato-nigral-degneration)
- Often this is hard to distinguish from Parkinson’s disease. The typical Parkinsonian rest tremor occurs less commonly. An MRI can sometimes identify changes in the brain that can suggest this diagnosis.
- Patients may develop rigidity with generalized slowness, masked face, a shuffling gait and quiet, muffled speech. Swallowing problems occur as the disease advances.
- Dystonic (muscular twisting) postures are noticed, as are abnormalities of neck posture with a marked forward tilt of the head on the neck. Personality changes such as anxiety and irritability are often seen. The response to medication is disappointing. This disorder can steadily progress, unaltered by anti-Parkinsons medications. Survival can be threatened within 4 – 5 years.
Dementia with Lewy bodies (DLB)
This is a progressive dementia that leads to a decline in thinking, reasoning and independent function, due to abnormal microscopic deposits called Lewy bodies that damage brain cells over time.
Early in the course of the disease, it is often mistaken for Parkinson’s disease because patients will develop a hunched posture, rigid muscles, generalized slowness, a shuffling walk and balance problems. However, patients with Lewy body dementia tend to progress at an alarming rate, and within a few years will quickly develop ….
- significant problems with short term memory
- delusional thinking
- visual hallucinations (often about small imaginary people in the home environment)
- alertness that varies significantly day to day or from one time of the day to another
- acting out dreams, sometime violently, a problem known as rapid eye movement (REM) sleep behaviour disorder
The main component of Lewy bodies is alpha-synuclein, the protein which is also implicated in Parkinson’s disease – patients with Parkinson’s disease can also develop dementia, much later in the course of the disease. It is now believed that Lewy body dementia and Parkinson’s disease dementia are two different expressions of the same underlying problems with brain processing of alpha-synuclein. But most experts recommend continuing to diagnose Lewy body dementia and Parkinson’s dementia as separate disorders, as the prognosis for a good quality of life are very different.
- Parkinson’s disease dementia is diagnosed when a person who was originally diagnosed with Parkinson’s disease based on movement symptoms, develops dementia several years later.
- Lewy body dementia is diagnosed when:
- dementia symptoms consistent with Lewy body dementia appear first.
- when both dementia and movement symptoms are present at the time of diagnosis.
- when dementia symptoms appear within 1 year after movement symptoms.
Most people diagnosed with Lewy body dementia have no significant family history of the disorder, and no genes linked to Lewy body dementia have been conclusively identified. And unfortunately, there are no treatments available to slow the brain cell damaged that occurs in Lewy body dementia.
There are treatments which can help with the symptoms and produce a measurable improvement in quality of life for a person afflicted with Lewy body dementia.
- Cholinesterase inhibitors – these medications increase the brains level of acetylcholine, a chemical messenger important for learning and memory. There are three medications currently on the market – donepezil (Aricept), rivastigmine (Excelon) and galantamine (Razadyne).
- Excessive daytime sleepiness can be treated with a medication called modafanil.
- REM sleep behavior disorder may respond to both melatonin and low-dose clonazepam.
- Depression can be treated with anti-depressants. The most commonly used antidepressants are selective serotonin reuptake inhibitors (SSRIs).
- With respect to the visual hallucinations … there is rarely a need to treat hallucinations if they do not cause agitation in the patient, which is often the case in Lewy body dementia. However, if needed, quetiapine can be used safely in small doses. More recently, the antipsychotic pimvanserin (Nuplazid) may also reduce psychosis symptoms without worsening motor function.
- Both physiotherapist and occupational therapists should be consulted early on to help with balance and to assess the use of gait aides and other devices that can make the home environment safer to navigate.
Cortical Basal Degeneration (CBD)
This is a rare drug resistant parkinsonism. It is characterized by the marked asymmetry of the Parkinsonian features until late in the disease. The patients will frequently have apraxia (inability to properly use a limb for complex tasks despite normal power and only mild incoordination), action myoclonus (jerky abnormal movements superimposed on normal movements), “alien limb phenomenon” (one limb seems to have a mind of its own, sometimes actively interfering with planned movements), and stimulus sensitive myoclonus (involuntary jerking in response to light touch).
Early on the condition may be misdiagnosed as Parkinson’s disease. Marked often painful rigidity may occur late in this disorder. Tremor is not as common as in Parkinson’s disease.
CT scanning, or MRI may identify local atrophy (shrinkage) of the surface (cortex) of the brain late in this condition.
Summary
All of these conditions are extremely frustrating for patients as well as their caregivers because of the difficulty improving the majority of their symptoms. This can often lead to patients seeking additional specialist opinions, as well as unproven treatments. Maintaining an ongoing relationship with a familiar family physician or specialist is extremely important to guide the ongoing care of a patient with any of these complicated group of disorders.