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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.
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PMID:Four siblings with Hallervorden-Spatz disease. 1137 2

Hallervorden-Spatz syndrome (HSS) is a degenerative neurologic disorder associated with progressive rigidity, dystonia, impaired voluntary movement, dysarthria, and mental deterioration. Pathologically, there is iron deposition in the basal ganglia, with destruction of basal ganglia output neurons. Recent advances in the understanding of basal ganglia functional anatomy and physiology make it possible to hypothesize how specific neural mechanisms relate to specific clinical manifestations of HSS. Experimental lesions of the basal ganglia output nucleic cause involuntary muscle contractions, similar to contractions observed in dystonia. A model of selection and suppression of competing motor patterns by the basal ganglia is presented in relation to the manifestations of damage to basal ganglia output neurons. It is hypothesized that the dystonia and other motor abnormalities seen in HSS can be attributed to degeneration of basal ganglia output neurons.
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PMID:Basal ganglia motor function in relation to Hallervorden-Spatz syndrome. 1155 41

Hallervorden-Spatz syndrome is a group of rare and severe disorders marked by extrapyramidal symptoms and iron accumulation in the globi pallidi, usually visible by magnetic resonance imaging. To assist in determining the functional correlates of these structural abnormalities, positron emission tomography was used to measure regional cerebral blood flows and dopaminergic function in a patient with Hallervorden-Spatz syndrome that manifested as progressive generalized dystonia, optic atrophy, and bilateral pallidal "eye of the tiger" sign. Voxel-by-voxel analysis of positron emission tomography images revealed no pallidal abnormalities but demonstrated significant hypoperfusion of the head of the right caudate nucleus, pons, and cerebellar vermis. Dopaminergic function of the basal ganglia, which was assessed based on visual- analysis of fixation of 18F-labeled fluoro-levodopa, was normal. These data suggest that Hallervorden-Spatz syndrome pathogenesis is not confined to the globi pallidi, and these data also may help to generate new pathogenic hypothesis.
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PMID:Striatal and pontocerebellar hypoperfusion in Hallervorden-Spatz syndrome. 1155 49

Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias.
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PMID:The genetics of primary dystonias and related disorders. 1191 6

The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease. In addition, gene mutations have been identified in less common movement disorders including Wilson's disease, Hallervorden-Spatz syndrome, paroxysmal kinesogenic choreoathetosis, neuroacanthocytosis, and some forms of dystonia. This article summarizes what is known about the genetic mutations that cause these movement disorders, as well as the clinical features of each disease and the symptomatic treatments currently available.
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PMID:Inherited movement disorders. 1243 29

Pantothenate kinase-associated neurodegeneration (PKAN) (MIM 234200; Hallervorden-Spatz syndrome) is a degenerative, autosomal recessive disorder in childhood, currently without specific treatment. In contrast to variable clinical features, T2-weighted magnetic resonance images show a characteristic 'eye-of-the-tiger sign' in the globus pallidus due to excess iron deposition. Recently a defect in pantothenate kinase, the key regulatory enzyme in the synthesis of coenzyme A from pantothenate, has been identified as the cause of the disease. We report a 12-year-old boy with progressive rigidity, dystonia, impaired voluntary movement, dysarthria, and mental deterioration. Over 10 years the boy had been misdiagnosed with clumsiness, emotional and behavioural deficits, and attention deficit disorder, before neuroimaging was performed showing the characteristic 'eye-of-the-tiger sign'. Molecular analyses confirmed two mutations in the PANK2 gene [coding sequence of a gene that has homology to murine pantothenate kinase-1]. We conclude that in progressive childhood dystonia, PKAN should be considered and magnetic resonance imaging performed early. The newly described defect of the pantothenate kinase enzyme enables a novel therapeutic approach to be considered, based on the mutation analyses of the PANK2 gene, as well as the prenatal diagnosis of this disorder.
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PMID:Progressive dystonia in a 12-year-old boy. 1269 33

Childhood dystonias are a heterogeneous group of disorders with strong inherited basis. This review describes the clinical characteristics, classification, genetic basis, pathophysiology, biochemistry, pathology, and treatment of dystonias, including the primary dystonias, the dystonia-plus syndromes, secondary dystonias, and heredodegenerative disorders. Conditions discussed in detail include idiopathic torsion dystonia, dopa-responsive dystonia, Wilson's disease, myoclonus dystonia, rapid-onset dystonia parkinsonism, neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome), mitochondrial dystonias, Niemann-Pick type C, and neuroacanthocytosis.
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PMID:Childhood dystonia. 1278 48

Hallervorden-Spatz syndrome (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. An atypical form of adult-onset HSS was observed in a 36-year-old man presenting with progressive dysarthria. Markedly dysarthric speech and a weak atrophic tongue associated with a neurogenic pattern of motor unit recruitment in bulbar-supplied muscles on electromyography led to an initial impression of bulbar amyotrophic lateral sclerosis (ALS). Lack of expected progression of symptoms, however, prompted reinvestigation. Repeat brain magnetic resonance imaging demonstrated an "eye-of-the-tiger" pattern in the basal ganglia, characteristic of HSS, thus requiring genetic studies. DNA analyses of the pantothenate kinase gene (PANK2) was conducted and revealed two novel, disease-causing exon 3 missense mutations (Cys231Ser and Tyr251Cys). This case broadens the genotypic and phenotypic spectrum of HSS to include a late-onset syndrome resembling bulbar-onset ALS.
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PMID:Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis. 1281 83

A nine-month-old infant presented with fever and loss of milestones. Examination revealed intermittent rigidity and dystonic movements. Magnetic resonance imaging (MRI) shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting Hallervorden Spatz Disease. The dopamine-neuromelanine system has been postulated to be the possible pathogenesis. Gene mapping has located the defect to be in the coding sequence of a gene called PANK-2. Prenatal diagnosis is possible. The case is reported because of its rarity and early presentation.
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PMID:Hallervorden Spatz disease. 1292 23

STN-HFS is well known to improve patients with IPD. Because off-period dystonia mimics focal or generalized dystonia of other causes, we proposed bilateral STN-HFS to some patients with generalized dystonia. The aim of this study was to compare the efficacy of STN stimulation on off-period dystonia and generalized dystonia. From a larger series of patients with IPD, we selected 22 patients based on the presence of severe preoperative off-period dystonia rated > or = 3 in least one limb on a severity score ranging from 0 to 4. Four patients with generalized dystonia (Hallervorden-Spatz disease, n = 3; primary, n = 1) underwent bilateral STN-HFS. Dystonia of the four limbs was rated on video recordings in all patients before surgery and 3 months after surgery. In IPD, bilateral STN stimulation reduced the severity of off-period dystonia by 70% on the four limbs (preoperative mean severity score = 2.03 +/- 1.49; postoperative mean severity score = 0.60 +/- 0.78). In contrast, bilateral STN-HFS had no effect on generalized dystonia (preoperative mean severity score = 3.25 +/- 0.77; postoperative mean severity score = 3.12 +/- 0.62). Despite clinical similarities between off-period dystonia in Parkinson's disease and generalized dystonia in certain cases, the effect of chronic bilateral STN-HFS differs. STN stimulation is highly effective in off-period dystonia of IPD, whereas it does not improve generalized dystonia. The pathophysiologic mechanisms underlying dystonia in these two disorders are still unknown. Assuming that the mechanism of action of STN-HFS is similar regardless of the cause of dystonia, our findings suggest that the STN is not similarly involved in off-period dystonia of IPD and others dystonias.
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PMID:Off-period dystonia in Parkinson's disease but not generalized dystonia is improved by high-frequency stimulation of the subthalamic nucleus. 1450 88


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