1/34. Primary central nervous system lymphoma presenting with a parkinsonian syndrome of pure akinesia.The incidence of primary central nervous system lymphoma (PCNSL), once a rare tumour, has risen significantly in both immunocompetent and immunosuppressed patients. Although infiltration of the basal ganglia is not uncommon in PCNSL, extrapyramidal movement disorders are generally not recognised as a mode of clinical presentation of this type of cerebral tumour. We present the unusual case of a 75-year-old man who developed a parkinsonian syndrome of "pure akinesia" due to autopsy-confirmed PCNSL primarily involving the globus pallidus bilaterally. Parkinsonism due to bilateral pallidal lesions is known but rare, and such cases help in the understanding of basal ganglia function with regard to akinesia and freezing.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
2/34. Parkinsonism due to predominant involvement of substantia nigra in Japanese encephalitis.OBJECTIVE: To study the clinical correlates of lesions seen predominantly in the substantia nigra in some patients with Japanese encephalitis (JE). BACKGROUND: JE typically involves thalamus, brainstem, spinal cord, and cerebral cortex. Rarely, basal ganglia and cerebellum may be affected. Lesions are often widespread and discrete. Predominant involvement of substantia nigra in JE has not been previously reported. methods: Of 52 patients with JE seen in an endemic zone, five were selected on the basis of isolated lesions in the substantia nigra on MRI; all were subjected to detailed clinical and laboratory evaluation. RESULTS: Presenting symptoms were fever, alteration of consciousness, neck stiffness, and decreased body movements. Examination during acute illness revealed restricted eye movements, opsoclonus, upbeating nystagmus, and cogwheel rigidity. There was early and complete recovery of consciousness and eye signs. Parkinsonian features such as positive glabellar tap sign, masklike face, bradykinesia, tremors, and postural instability became apparent as these patients started walking. Reversible mutism was observed in three patients during the acute phase. Response to levodopa, amantadine, and trihexiphenedyl was partial. Three patients were followed for more than 1 year, during which time their parkinsonian features recovered completely. Substantial recovery was also observed in the two other patients 2 months after regaining consciousness. CONCLUSIONS: Some patients with Japanese encephalitis may have lesions predominantly in the substantia nigra. After recovery from acute encephalitic illness, they manifest clinically with typical parkinsonian features. Although several viruses are known to cause parkinsonism, this is the first demonstration of a virus producing lesions predominantly in the substantia nigra and causing parkinsonism.- - - - - - - - - - ranking = 2keywords = movement (Clic here for more details about this article) |
3/34. Postural and action myoclonus in patients with parkinsonian type multiple system atrophy.patients with a parkinsonian syndrome and features of multisystem atrophy (pMSA) may exhibit abnormal movements of the hands and fingers, which are reported in the literature either as "jerky" tremor or myoclonus. We studied clinically and electrophysiologically these movements in 11 consecutive patients with pMSA. No abnormal movements were observed when the patients were at complete rest, except for a characteristic parkinsonian "pill-rolling" tremor in one patient. Abnormal small-amplitude, nonrhythmic movements involving just one or a few fingers, or more rarely the whole hand, were observed in nine patients when holding a posture or at the beginning of an action. Accelerometric recordings showed small-amplitude irregular oscillations which, contrary to those of patients with tremor, had no predominant peak in the Fast Fourier frequency spectrum analysis. Electromyographic recordings in the forearm and hand muscles showed brief jerks of less than 100 ms duration which were synchronous in antagonist muscles of the forearm and alternated with brief periods of silence. Electrical stimulation of the digital nerves evoked consistent reflex responses in the wrist flexor and extensor muscles at a latency of 55.3 /-4.1 ms (range, 50-63 ms). Routine electroencephalographic (EEG) and somatosensory evoked potentials to median nerve stimulation were normal. back-averaging of the EEG activity time-locked to the jerks was performed in two patients with no evidence of abnormal cortical activity. Two patients had episodes of transient respiratory failure related to pneumonia. This caused a long-lasting enhancement of the abnormal hand and finger movements, which became larger and more widespread, with features of posthypoxic myoclonus. We conclude that the abnormal hand and finger movements of patients with pMSA are a form of postural and action myoclonus, and can be described as mini-polymyoclonus.- - - - - - - - - - ranking = 6keywords = movement (Clic here for more details about this article) |
4/34. A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 3-splice site mutation in the tau gene: clinical and pathological features.Hereditary frontotemporal dementia and parkinsonism (FTDP) linked to chromosome 17 (FTDP-17) constitutes a new form of tauopathy, and mutations in the tau gene have recently been reported in some affected families. This report presents clinical and neuropathological data from a member of a British family (SOT 254) with a history of dementia and movement disorder. The medical history of the affected patient, a woman aged 44 years, was reviewed, and a detailed post-mortem examination of the brain was undertaken. A panel of well characterized phosphorylation-dependent and independent anti-tau antibodies was used to assess tau pathology, and inclusions were examined by electron microscopy. Neuronal loss and gliosis were widely distributed, but most severe in neocortical regions, and were associated with abundant neuronal and glial tau inclusions which consisted of a mixture of paired helical filaments (PHFs), similar to those in Alzheimer's disease, and distinct twisted ribbon-like filaments. Genomic dna was obtained from post-mortem tissue from the index patient, and blood from two unaffected members of the same family. For the index case only, sequencing of intronic sequences flanking exon 10 of the tau gene identified a G to A transition at position 3 of the splice-donor site downstream of exon 10, identical to that reported in multiple system tauopathy with presenile dementia (MSTD). The clinical, neuropathological and genetic findings strongly suggest that SOT 254 represents a new example of FTDP-17 resulting from a mutation in the tau gene. These results are compared with those reported for other FTDP-17 families, i.e. for MSTD.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
5/34. Neuronal intranuclear inclusion disease and juvenile parkinsonism.Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17-year-old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was wide-spread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.- - - - - - - - - - ranking = 169.74538180273keywords = dyskinesias (Clic here for more details about this article) |
6/34. L-dopa-resistant parkinsonism syndrome following cerebral radiation therapy for neoplasm.A bradykinetic form of parkinsonism, unresponsive to levo-dopa therapy developed in four patients two to eight weeks after completion of external beam irradiation (39.2 Gy to 59.4 Gy) of their intracranial neoplasm. In the absence of other causative factors, we relate the movement disorder to radiation-induced changes within the basal ganglia. At post-mortem examination one patient had putamenal gliosis and thickened vessels with loss of nigral neurons.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
7/34. Juvenile parkinsonism: a heterogeneous entity.We studied the clinical features, laboratory investigation, management and natural history of a cohort of patients with Juvenile Parkinsonism (JP), seen at a tertiary referral centre. JP was defined as Parkinsonism with onset at age 20 years or less. Six patients (five male, one female) entered the study. The mean age at onset of Parkinsonism was 12.5 years (range 7-19) and the mean follow-up time was 49.3 months (range 40-57). Bradykinesia, rigidity, and postural instability were observed in all patients and five subjects had tremor. dystonia was present in four subjects. Other clinical features were dementia (five subjects), supranuclear ophthalmoparesis (five subjects), seizures (three subjects), multifocal myoclonus (one subject), decreased deep reflexes (one subject), pyramidal signs (one subject). family history of Parkinson's disease (PD) was positive in one subject. work-up for Wilson's disease was negative in all patients. neuroimaging studies showed cortical atrophy in two subjects and mild brainstem atrophy in two others. Sea-blue histiocytes were found in one subject. L-dopa improved the Parkinsonism in all subjects but four rapidly developed fluctuations and dyskinesias, requiring, in one, stereotaxic surgery. After a mean disease duration of 6.5 years, five subjects require assistance for performance of all daily activities. JP is a heterogeneous clinical entity. In the majority of patients, no underlying cause is identified. The unusual clinical features suggest most subjects have a CNS degenerative disease distinct from PD. There is, however, evidence suggesting that PD may rarely cause JP. Gangliosidosis is another cause of L-dopa-responsive JP. Regardless of the cause, in the present study JP displays an aggressive and rapidly progressive course in most patients.- - - - - - - - - - ranking = 169.74538180273keywords = dyskinesias (Clic here for more details about this article) |
8/34. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose L-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
9/34. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 /- 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 /- 8.5 years, and average disease duration was 21 /- 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.- - - - - - - - - - ranking = 169.74538180273keywords = dyskinesias (Clic here for more details about this article) |
10/34. Extra-pyramidal parkinsonism complicating organophosphate insecticide poisoning.We present a 1 7-year-old female with acute extra-pyramidal parkinsonism complicating a suicidal attempt with the organophosphate insecticide chlorpyrifos, who was initially suspected to have developed severe depression or psychosis. On admission she was stupurous, with diarrhoea and massive salivation lapsing into respiratory failure and coma. Following atropine and toxogonin treatment along with mechanical ventilation she developed overt extrapyramidal parkinsonism and encephalopathy, characterized by impaired sensorium and agitation, mask facies along with a muffled voice and swallowing impairment, a resting tremor with cogwheel rigidity switching to bradykinetic choreoathetotic movements. Once a parkinsonian syndrome was diagnosed, she was given amantadine therapy with complete recovery. The patient is presently maintained on amantadine therapy; there was mild worsening of her extrapyramidal signs following unplanned discontinuation of this medication, and on follow-up assessments after 9 months she is virtually asymptomatic. A parkinsonian extrapyramidal syndrome, complicating organophosphate intoxication, should therefore also be taken into account in any patient with organophosphate poisoning, presenting with marked behavioural alterations, rigidity or akinetic mutism, and beneficial response to amantadine.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
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