1/14. Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism.OBJECTIVE: To report a unique hereditary, juvenile onset, craniocervical predominant, generalized dystonia and parkinsonism affecting four members of one family. family DESCRIPTION: A father and three of his four daughters presented to us over the past 30 years with a similar picture of generalized dystonia, starting in the craniocervical region in the second or third decade of life. They later developed moderate parkinsonism, mainly manifesting bradykinesia, rigidity and abnormal postural reflexes. Biochemical and genetic tests excluded Wilson's disease, Huntington's disease and Oppenheim's dystonia. CONCLUSION: This is a new type of familial dystonia-parkinsonism where the craniocervical dystonic symptoms are most prominent in the early stages while parkinsonism becomes the predominant problem later in life. A search for the genetic mutation in this family is underway.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
2/14. Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia.OBJECTIVES: To interpret clinical features after unilateral lesions of the globus pallidus on the basis of physiology of the basal ganglia. methods: Four patients with unilateral lesions in the globus pallidus (GP) were clinically examined and the literature on patients with pallidal lesions was reviewed. RESULTS: Three patients presented with contralateral dystonia largely confined to one arm in one case and one leg in two cases. One patient had predominant contralateral hemiparkinsonism manifested mainly as micrographia and mild dystonia in one arm. The cause of the lesions was unknown in two patients. In the other two symptoms had developed after head trauma and after anoxia. All lesions involved the internal segment of the GP. Two patients, including the patient with hemiparkinsonism, had additional involvement of the external segment of the GP. In the literature reports on 26 patients with bilateral lesions restricted to the GP only two with unilateral lesions were found. The patients with bilateral pallidal lesions manifested with dystonia, parkinsonism, or abulia. One of the patients with unilateral GP lesions had contralateral hemidystonia, the other contralateral arm tremor. CONCLUSION: These cases emphasise the importance of the GP, particularly its internal segment, in the pathophysiology of dystonia.- - - - - - - - - - ranking = 0.375keywords = parkinsonism (Clic here for more details about this article) |
3/14. SPECT imaging of the dopamine transporter in juvenile-onset dystonia.Juvenile-onset dystonia that improves after levodopa may occur in both dopa-responsive dystonia (DRD) and juvenile parkinsonism (JP), clinically similar conditions with different prognoses and management goals. The authors show normal striatal uptake of the dopamine transporter ligand FP-CIT with SPECT in a clinically atypical case of DRD, in contrast to the reduced uptake observed in JP.- - - - - - - - - - ranking = 0.125keywords = parkinsonism (Clic here for more details about this article) |
4/14. X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?"Lubag," or Filipino X-linked dystonia, typically presents with either pure dystonia (that inexorably becomes generalized) or combined dystonia-parkinsonism. We report on three cases of Lubag presenting with isolated parkinsonism without dystonia or late-onset dystonia and a slower course.- - - - - - - - - - ranking = 0.75keywords = parkinsonism (Clic here for more details about this article) |
5/14. Possible sporadic rapid-onset dystonia-parkinsonism.Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.- - - - - - - - - - ranking = 0.82531666284876keywords = parkinsonism, parkinsonian (Clic here for more details about this article) |
6/14. Normal dopamine transporter binding in dopa responsive dystonia.We report the clinical manifestations of dopa responsive dystonia (DRD) in 2 patients from the same family. The brain magnetic resonance images (MRI) were normal. The dopamine transporter (DAT) imaging with (99m)Tc-TRODAT-1 was performed in the 2 probands, 8 patients with young onset parkinson disease (YOPD) and 16 normal controls. The ratios of (99m)Tc-TRODAT-1 brain SPECT in the striatum were 2.40 /- 0.12 (right) and 2.30 /- 0.17 (left) in these 2 DRD patients as compared with 1.38 /- 0.18 (right), 1.41 /- 0.20 (left) in YOPD patients, and 2.15 /- 0.35 (right), 2.14 /- 0.32 (left) in normal controls respectively. A normal DAT uptake was found in DRD suggesting a normal presynaptic nigrostriatal dopaminergic terminal. We conclude that a normal DAT in parkinsonian patients can differentiate DRD from YOPD. In addition, DAT with (99m)Tc-TRODAT-1 is a reliable and convenient tool to study the function of the presynaptic dopaminergic axonal terminals.- - - - - - - - - - ranking = 0.075316662848761keywords = parkinsonian (Clic here for more details about this article) |
7/14. Post-encephalitic segmental dystonia with apraxia of eyelid opening.We describe a 34 year old woman presenting with a 25 year history of segmental dystonia with apraxia of eyelid opening, orofacial and focal upper limb dystonia following an episode of meningoencephalitis. Post-encephalitic apraxia of eyelid opening has not been previously reported in the absence of parkinsonian features.- - - - - - - - - - ranking = 0.075316662848761keywords = parkinsonian (Clic here for more details about this article) |
8/14. Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.- - - - - - - - - - ranking = 0.125keywords = parkinsonism (Clic here for more details about this article) |
9/14. Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3.A genetically confirmed case of spinocerebellar ataxia type 3 (SCA 3), presenting with disabling foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported. The dystonia improved dramatically with levodopa treatment in the absence of additional parkinsonian feature. A trial of levodopa for dystonia in SCA 3 may be of therapeutic benefit, at least in the initial stage of the disease.- - - - - - - - - - ranking = 0.075316662848761keywords = parkinsonian (Clic here for more details about this article) |
10/14. Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation.We report on a woman who had a severe sporadic nonprogressive dystonia-parkinsonism syndrome with rapid onset of symptoms at age 21. Secondary causes for dystonia were ruled out. No response to levodopa/carbidopa was seen. The patient fulfilled all diagnostic criteria of rapid-onset dystonia-parkinsonism, except for autosomal-dominant inheritance. Bilateral deep brain stimulation of the globus pallidus failed to alleviate her symptoms.- - - - - - - - - - ranking = 0.75keywords = parkinsonism (Clic here for more details about this article) |
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