Diagnostic Difficulties And Diagnostic Accuracy

In the tertiary referral setting, the diagnosis of a patient consulting with a history of early falls and visual disturbances can be obvious, however, the diagnosis of PSP may be challenging at early disease stages when the clinician is not familiar with the condition or does not have a high index of suspicion. This is particularly true since, as discussed, individual clinical features of PSP may occur in other parkinsonian or dementia disorders, and telltale signs may present in midstages of...

Eeg

Motoneuron disease Fasciculation atrophy Polyneuropathy Absent tendon jerks Severe sensory deficit Alzheimer's disease Dementia Myoclonic epilepsy Seizures Syringomyelia MSA-P Weakness. Spasticity Sensory deficit Asynchronous (1-20 Hz) Not described Not described Slow and asynchronous Not described Not described Synchronized or irregular Slow negative Present Asynchronous and Not described Not described Synchronous (1-12 Hz) Normal Present Autonomic nervous system dysfunction is the key to the...

Marie Vidailhet Frdric Bourdain and Jean Marc Trocello

The current chapter was prepared to help clinicians examine patients with parkinsonian syndromes and to detect clinical signs and clues that should alert to the appropriate diagnosis. For the main clinical diagnosis criteria of various parkinsonian syndromes (Parkinson's disease PD , multiple system atrophy MSA , progressive supranuclear palsy PSP , corticobasal degeneration CBD , and dementia with Lewy bodies DLB ,), the semiology will be detailed. The validity and reliability of these...

Irene Litvan md

Atypical Parkinsonian Disorders Clinical and Research Aspects, edited by Irene Litvan, 2005 Psychiatry for Neurologists, edited by Dilip V. Jeste and Joseph H. Friedman, 2005 Status Epilepticus A Clinical Perspective, edited by Frank W. Drislane, 2005 Thrombolytic Therapy for Acute Stroke, Second Edition, edited by Patrick D. Lyden, 2005 Parkinson's Disease and Nonmotor Dysfunction, edited by Ronald F. Pfeiffer and Ivan Bodis-Wollner, 2005 Movement Disorder Emergencies Diagnosis and Treatment,...

Of Parkinson

According to Kosaka (34,35), the topography of the Lewy bodies is organized in three different distributions. An X rectangle means presence of Lewy bodies. The brainstem type is commonly found in Parkinson's disease. The diffuse type is usually associated with DLB. In the transitional type, cognitive symptoms are common they may be primary or complicate IPD. The borders between the three types may be difficult to draw. It has been shown that even in cases of apparently uncomplicated IPD, the...

Clinical Examination

The 4-5 Hz tremor is most apparent when the arm is fully relaxed (supported and at rest, in an armchair). It is increased by mental calculation and stress and best seen during walking. It is reduced by action and intention (tricks used by the patients to hide the tremor). The classical description is the pill-rolling rhythmic alternating opposition of the thumb and forefinger. Some patients have postural tremor in particular conditions (holding a phone) with a different frequency (6 Hz). This...

Imaging

MRI scanning of patients with MSA often, but not always, reveals atrophy of cerebellar vermis and, less marked, of cerebellar hemispheres (52). There is also evidence of shrinkage of pons as well as middle cerebellar peduncles (27), differentiating MSA-C from cortical cerebellar atrophy (CCA). The pattern of infratentorial atrophy visible on MRI correlates with the pathological process of OPCA affecting the cerebellar vermis and hemispheres, middle cerebellar peduncles, pons, and lower...

Progressive Supranuclear Palsy

In 1963, Steele, Richardson, and Olszewski presented a report at the American Neurological Association of a new syndrome typified by parkinsonism, marked vertical gaze paresis, dementia, and axial rigidity (10,11). Though they felt they were describing a new syndrome, they referred colleagues to similar cases from the recent past (12-14) (Fig. 4). H. Houston Merritt opened the discussion, commenting that he had not seen similar cases, that the involved areas all related to cell populations of...

Laboratory

There are no laboratory markers for the diagnosis of PSP but ocular motor studies, electrophysi-ological studies, MRI, magnetic resonance spectroscopy, and positron emission tomography (PET) scans may be helpful to support the diagnosis or exclude other disorders. In general the sensitivity and specificity of these techniques in distinguishing patients with clinically equivocal or early PSP from other conditions has not been assessed. For this reason this techniques are not yet considered...

Pd Pd

Dystonia Rapid-onset dystonia Dystonia Chorea Depression, weight loss, hypoventilation Chorea, dystonia, pyramidal Occasionally fair' signs, dementia Dystonia, focal tremor, chorea, myoclonus, myorhythmia None Dementia, dystonia, ophthalmoplegia ALS, amyotrophic lateral sclerosis ATP7B, P-type adenosine triphosphatase CBD, corticobasal degeneration FTD, frontotemporal dementia FTDP-17, frontotemporal dementia and parkinsonism linked on chromosome 17 GCH, guanosine triphosphate cyclohydrolase I...

Vascular Parkinsonism

Although the concept of vascular parkinsonism, proposed by Critchley in 1929, was almost abandoned for many years, it has once more come to the fore. The prevalence and incidence of vascular parkinsonism is variable in different series. Diagnosis of vascular parkinsonism is usually suggested by acute onset or other signs of cerebrovascular disease, but needs to be confirmed by imaging studies (72). This is the form of parkinsonism that frequently can be diagnosed by CT, without requiring MRI to...

Clinical Features Of The Corticobasal Syndrome

Details regarding the specific clinical features of the CBS can be found in several sources (3,5,10,12,15-17). Progressive Asymmetric Rigidity and Apraxia The core clinical features are progressive asymmetric rigidity and apraxia. Symptoms typically begin in one limb, with no apparent predilection for the right or left side. Patients describe their limb as clumsy, incoordinated, or stiff. On examination the limb is mildly to severely rigid, and sometimes adopts a dystonic posture. Features of...

Motor Disorder

Because the results of drug treatment for the motor disorder of MSA are generally poor, other therapies are all the more important. Physiotherapy helps maintain mobility and prevent contractures, and speech therapy can improve speech and swallowing and provide communication aids. Dysphagia may require feeding via a nasogastric tube or even percutaneous endoscopic gastrostomy (PEG). Occupational therapy helps to limit the handicap resulting from the patient's disabilities and should include a...

Autonomic Function Tests

Autonomic function tests are a mandatory part of the diagnostic process and clinical follow-up in patients with MSA. Findings of severe autonomic failure early in the course of the disease make the diagnosis of MSA more likely, although the specificity in comparison to other neurodegenerative disorders is unknown in a single patient. Pathological results of autonomic function tests may account for a considerable number of symptoms in MSA patients and should prompt specific therapeutic steps to...

Neuropsychiatric Symptoms In Multiple System Atrophy

MSA is clinically characterized by the variable combination of autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs, and includes the previously called striatonigral degeneration (parkinsonian features predominate), sporadic olivopontocerebellar atrophy (OPCA) (cerebellar features predominate), and the Shy-Drager syndrome (autonomic dysfunction predominates). Histologically, all subtypes of MSA show glial cytoplasmic inclusions in oligodendrocytes of the cerebral white...

Neuropsychiatric Symptoms In Corticobasal Degeneration

CBD is characterized pathologically by neurodegeneration of frontal and parietal cortices, sub-stantia nigra, and several basal ganglia nuclei including subthalamic nucleus, striatum, and pallidum. Other brainstem nuclei, including locus ceruleus, raphe nucleus, and midbrain tegmentum, are also involved, with marked reductions of noradrenaline and serotonin in addition to the nigrostriatal dopamine deficiency (81). Tau protein-positive inclusions and achromatic neurons are found. Sev eral...

Early Concepts Of Atypical Parkinsons Disease

Nineteenth-century neurologists recognized three basic categories of parkinsonism that were suitably different from typical Parkinson's disease to merit designation cases without typical tremor, those with atypical postures (extension rather than flexion), and those with marked asymmetry in the form of seeming hemiplegia. Within these categories, modern neurologists will find characteristics that typify progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration,...

Corticobasal Degeneration

CBD, a rare neurodegenerative multisystem disorder of insidious onset, is typically described and characterized by its asymmetric motor signs of limb function abnormalities. We report on the nature, frequency, and severity of speech and language disturbances (see Chapters 18-21). A striking feature of CBD is the asymmetry with which the disease presents. Its progressive nature eventually involves extensive and bilateral damage to cortical and basal ganglionic structures. Both the asymmetry and...

Further Research In Neurophysiology Of

There is a large amount of possibilities for research in neurophysiology of parkinsonism and of movement disorders in general. Neurophysiology offers the advantage of a good temporal resolution of events and should bring further understanding of what is wrong in the CNS that leads to motor dsyfunction. The research in clinical neurophysiology will probably continue until the pathophysi-ological mechanisms of the diseases are well understood. However, meaningful information can only be obtained...

P301s

Modified from Wszolek et al. (13) and Ghetti et al. (16). By permission of Lippincott Williams & Wilkins and ISN Neuropath Press. a shuffling gait and reduced arm swing. His facial expression also had changed considerably, and drooling became a problem. Subsequently, a resting tremor developed in both legs (in the left more than the right) and occasionally in both hands. His balance deteriorated steadily over the next 2 yr. He experienced many falls throughout the day and had difficulty...

Postanoxic Parkinsonism

Parkinsonism can rarely result from hypoxic ischemic injury. Different movement disorders including chorea, tics, athetosis, dystonia, and myoclonus have been reported. Patients can develop parkinsonism with or without dystonia weeks to months after the ischemic event (74). MRI findings include T1 hyper intensities in the basal ganglia bilaterally, indicative of ischemia or gliosis. In the case described by Li et al. (74), the clinical findings included mainly an akinetic rigid syndrome with...

Parkinsonism Without Prominent Rest Tremor

Early neurologists recognized resting tremor as the most distinctive feature of typical Parkinson's disease, and placed patients who had unusual, intermittent tremor patterns or no tremor into the clinical category termed Parkinson's disease without tremor (3,4). Some of these cases actually had tremor, but the movements were mild in severity or intermittent and primarily induced with emotion or action (3). It is possible that myoclonus, a feature frequently seen in corticobasal degeneration,...

Hemiplegic Parkinsons Disease

Parkinsons Disease

Early neurologists considered Parkinson's disease to be a bilateral condition, but often commented on the mild asymmetry of tremor, especially in the early years of disease. Within the context of this asymmetric but bilateral archetype, they distinguished another form of Parkinson's disease that was highly asymmetric with prominent disability in the involved upper extremity beyond that expected with bradykinesia alone (3). Collectively termed hemiplegic Parkinson's disease, these cases form a...

Infectious Causes Of Parkinsonism

The association of human immunodeficiency virus (HIV) infection and movement disorders has been recognized since the first descriptions of neurological complications of HlV-associated AIDS (58). Secondary parkinsonism has been reported by various authors as case reports, but Mattos et al. (59) have reported movement disorders in 28 HIV patients of whom 14 patients had parkinsonism. The mean age at onset of parkinsonism was 37.2 yr (range 25-63). They report mean Hoehn and Yahr scale of 2.5...

Pathology

In MSA-P, the striatonigral system is the main site of pathology but less severe degeneration can be widespread and usually includes the olivopontocerebellar system (51). The putamen is shrunken with gray-green discoloration. When putaminal pathology is severe there may be a cribriform appearance. In early stages the putaminal lesion shows a distinct topographical distribution with a predilection for the caudal and dorsolateral regions (120). Later on during the course of disease, the entire...

Video Legends

Video 1 Voluntary saccades in Parkinson's disease. During the initial part of the clip, the patient is verbally instructed to look between two visual targets (a pen and the camera) some mild hypometria is evident. Subsequently, the patient is instructed to make self-generate saccades between two stationary targets about 60-80 apart hypometria becomes much more marked, as well as some delayed in initiation. Video 2 Vertical saccades in PSP. The patient is looking between two stationary targets...

Cbd

Mentalis Muscle

Blinking frequency Excitability recovery curve (paired pulses) Blinking to loud auditory Normal stimuli Blinking to median nerve Normal stimuli inhibition Somatosensory prepulse Normal inhibition IPD, idiopathic Parkinson's disease PSP, progressive supranuclear palsy MSA, multiple system atrophy (strionigral degeneration) CBD, corticobasal degeneration , data unknown. Eye and Eyelid Movement Abnormalities Observed in Patients With PSP Reduced spontaneous blinking (43) Blepharospasm (42)...

Future Directions

Apart from proton MRS, none of the MRI approaches described in this chapter have yet been used to study the pathophysiology of atypical parkinsonian disorders. Therefore, the potential of these techniques for the diagnosis and research of atypical parkinsonian disorders remains to be defined. Based on the MRI experience gathered with other neuropsychiatry disorders, we anticipate that fMRI, MRS, and water diffusion MRI will significantly contribute to early diagnosis and advance our...

Neuropsychiatric Symptoms In Progressive Supranuclear Palsy

Few studies have explored the neuropsychiatry symptoms of patients with PSP, a disorder characterized neuropathologically by abundant neurofibrillary tangles in several subcortical nuclei (stria-tum, pallidum, subthalamic nucleus), in addition to the substantia nigra (74). Prefrontal and parahippocampal cortices may also be involved. Locus ceruleus and raphe nuclei are relatively preserved, and noradrenaline and serotonin concentrations are usually not affected (28). Clinical symptoms include...

Dementia With Lewy Bodies

DLB is a clinically identifiable dementing illness that often includes parkinsonian features (68). The average ages at onset is 75 yr, and mean survival is about 3.5 yr, with a range of 1-20 yr (69). The central feature of DLB is progressively disabling dementia, but its core features, of which two out of three are necessary for a probable diagnosis, include fluctuating cognition, visual hallucinations, and motor signs of parkinsonism. Additional problems that may support the diagnosis include...

Animal Models

Experimental animal models of a-synucleinopathies are being produced by a number of laboratories (Table 2). They are essential for studying disease pathogenesis and for identifying ways to interfere with the disease process. Several transgenic mouse lines that express wild-type or mutant human Animal Models of a-Synucleinopathies Rotenone Worm Fly Mouse Rat Marmoset Motor Complex The rotenone model is in the rat. The genetic models in worm, fly, and mouse are based on the transgenic expression...

Classification Of Visuospatial Disorders

Visuospatial activities have been classified according to different criteria. O'Keefe and Nadel (1) divided them on the basis of the sensorimotor responses of persons moving in their own environment, classifying them as position (or egocentric) responses when subjects use their body as a reference, as cued responses when movements are guided by external cues, and as place responses when movements are guided by relationships between external references. Grusser (2) classified the space around...

Multiple System Atrophy

Olivopontocerebellar Atrophy Pathology

MSA has been separated into MSA-P and MSA-C according to the predominant parkinsonian or cerebellar features. The former corresponds to the old term striatonigral degeneration (SND), the latter to sporadic olivopontocerebellar atrophy (OPCA). The term Shy-Drager syndrome is no longer been considered useful by the Consensus Conference on MSA (11), but a proposal to introduce the term MSA-A (autonomic features-predominant MSA) was recently made by Horimoto et al. (12) to indicate those MSA...

Toxic And Metabolic Parkinsonism

A long series of toxic and metabolic disorders, acquired or inherited, may cause parkinsonian symptoms and signs (72). Many times the diagnosis is straightforward, known from the medical history, but the support of imaging studies may be useful in defining at least the extent of damage. This is the case of post-anoxic encephalopathy or carbon monoxide intoxication, in which the lesions involve the white matter and the basal ganglia where they are prevalent in the pallida (73,74). The same...

The Impact Of Parkinsonism On Healthrelated Quality Of Life

The only parkinsonian disorder that has been assessed in detail with regard to Hr-Qol is PD. Studies on Hr-QoL of patients with PD have improved our understanding of subjectively experienced difficulties associated with this disease, and we now have a clearer understanding of what aspects of Hr-QoL are most important to patients with PD. A full review of the expanding Hr-QoL literature in PD is beyond the scope of this chapter. However, it has consistently been found that all areas of Hr-QoL...

Metabolic Causes Of Parkinsonism

Important metabolic causes of parkinsonism include hypothyroidism and parathyroid dysfunction. Patients with hyperparathyroidism have clinical presentation identical to that of idiopathic PD, but the syndrome is levodopa resistant. The symptoms, however, may be relieved after resolution of the parathyroid dysfunction by surgical removal of the parathyroid adenoma. Hypoparathyroidism may also cause levodopa unresponsive parkinsonism (69,70). Bilateral striopallidodentate calcinosis, also known...

Hemiparkinsonismhemiatrophy

Hemiparkinsonism-hemiatrophy (HPHA) syndrome was first described by Klawans in 1981 (87), who described four individuals with known hemiatrophy with narrow extremities on one side who developed delayed-onset hemiparkinsonism between ages 31 and 40 with tremor on the same side as the hemiatrophy along with rigidity, akinesia, and dystonia, but no evidence of hypomimia, or abnormal posture or lack of postural reflexes. Their symptoms remained unilateral between 5 and 35 yr after onset of illness....