11/40. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.Spasticity and dystonia have been associated with mitochondrial (mt) dna mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) --> adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G --> A transition mutation is causally related to LHON and spasticity/dystonia.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
12/40. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and October 2002. The disease frequently is reported in the Japanese literature (75%). patients are normal at birth and have normal early motor and mental development. Onset is within the first decade with abnormal gait, or worsening of speech is an initial symptom. dystonia occurs in 97% of patients. Facial dystonia described as "facial grimacing" observed in approximately 90% could be an important clinical clue. dysarthria/anarthria (97%) is frequent, and eye movements are normal. bone marrow examination may show Gaucher-like foam cells (39%). magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images. diagnosis is confirmed by demonstrating deficiency of beta-galactosidase. adult (Type 3) GM1 Gangliosidosis commonly presents with generalized dystonia with prominent facial dystonia, severe speech disturbances, and normal eye movements. Bone marrow frequently shows Gaucher-like foam cells. MRI shows typical lesions in the putamen. Deficiency of beta-galactosidase in fibroblasts confirms the diagnosis.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
13/40. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
14/40. Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia.We investigated a five-year-old girl suffering from genetically confirmed, action-induced myoclonus-dystonia (M-D) with functional magnetic resonance imaging (MRI). We compared the activation pattern by movements of her right hand as if drawing a picture, which elicited M-D, with simple snapping movements (without overt M-D). The drawing and snapping conditions resulted in activation of a motor network including the motor cortex, the putamen, and the cerebellar hemispheres. The direct comparison of the drawing condition with snapping as control revealed specific activations within the thalamus and the dentate nucleus. An age matched healthy control did not show significant activation within the thalamus or dentate nucleus.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
15/40. Dopa-responsive dystonia: [18F]dopa positron emission tomography.The syndrome of dopa-responsive dystonia comprises a minority of patients with dystonia, yet it is of considerable diagnostic importance because patients respond dramatically to L-dopa therapy. Benefits from this treatment are lasting, and the problems associated with long-term L-dopa therapy in patients with Parkinson's disease are generally absent. It has been suggested that this condition is due to a defect in the dopamine synthetic pathway, which is bypassed when patients are treated with L-dopa. We have studied [18F]dopa uptake in 6 patients with classic dopa-responsive dystonia (5 familial patients and 1 sporadic patient), aged 18 to 66 years. Data have been analyzed according to a graphic approach, calculating an influx constant for each region studied. We have also studied a seventh, clinically atypical, patient with juvenile dystonia-parkinsonism. Similar data have been calculated for a group of 10 healthy control subjects and 10 patients with Parkinson's disease. The 6 patients with typical dopa-responsive dystonia had a modest but significant reduction in the uptake of tracer into both caudate and putamen, which indicates a defect in the decarboxylation, vesicular uptake, and storage of [18F]dopa. This argues against the proposition that dopa-responsive dystonia is due to an inherited defect of tyrosine hydroxylase alone. In the atypical patient, however, we found a greater reduction of [18F]dopa uptake into both caudate and putamen, comparable with that in patients with Parkinson's disease.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
16/40. Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign.A large kindred, in which either Leber's hereditary optic atrophy, or a hereditary spastic dystonia, or a combination of both manifested over many generations was restudied after the first report on it in 1964. NMR scans revealed bilateral, and, in two patients with hemidystonia, unilateral necrosis with shrinkage of the putamen, in one case associated with total disappearance of the head of the caudate nucleus. Except for age-appropriate cortical atrophy in one instance, no other changes were observed in the brain, brainstem, and cerebellum. The putaminal necrosis appears as typical "striatal slits" on the NMR scans. It is argued that this rare disease, since the princeps description in 1964 only reported in england (1986) and the U.S.A (1986), is most likely a singular type of mitochondrial encephalopathy: it is associated with Leber's optic atrophy, and the NMR changes observed have been signalled in other mitochondrial encephalomyelopathies, such as Leigh's disease and MELAS.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
17/40. dystonia and akinesia due to pallidoputaminal lesions after disulfiram intoxication.A case with segmental cranial plus crural dystonia of delayed onset and akinesia after acute intoxication with disulfiram is presented. Computed tomography showed bilateral pallidal lesions, whereas on magnetic resonance imaging additional small lesions of the putamen could be detected. Long-term observation with progression and a change of symptoms over a period of 10 years after the intoxication is demonstrated on videotape. Although other central side effects after intoxication with disulfiram are well known, movement disorders are uncommon. carbon disulfide, a disulfiram metabolite, may be important in the etiopathogenesis.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
18/40. Acute profound dystonia in infants with glutaric acidemia.Acute profound dystonia developed in three previously well infants who were found to have glutaryl-coa dehydrogenase deficiency in cultured skin fibroblasts. Two patients had excessive urinary excretion of glutaric acid, but one did not. Neuroradiologic studies performed in all three patients at the onset of their illnesses revealed large CSF-containing spaces both within the sylvian fissures and anterior to the temporal lobes. Pathologic examination of the brain of one patient demonstrated cerebral and cerebellar atrophy, shrinkage of the putamen, and white matter vacuolation. Glutaric acidemia may be a common cause of acquired persistent dystonia or choreoathetosis in infancy.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
19/40. Clinical and CT scan findings in a case of cyanide intoxication.A 39-year-old man showed a combination of severe parkinsonism and progressive dystonia following attempted suicide with sodium cyanide. Computed tomography (CT) scan showed bilateral lucencies in the putamen and external globus pallidus. The topography of lesions on CT scan closely correlated with the pathological findings described in a previous report of cyanide-induced parkinsonism. This is the first reported case of cyanide intoxication with delayed-onset dystonia.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
20/40. Neurochemical findings in neuroacanthocytosis.We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, gamma-aminobutyric acid and substance p, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H-spiperone to striatal membranes and to lymphocytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonia and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepinephrine levels in the putamen and globus pallidus. substance p was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
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