Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.
 ...
PMID:Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. 144 70

The case of a 15 year old male patient with progressive dystonia, dysarthria and dementia is presented. No diagnosis could be found on clinical grounds. Low field MRI (0.23 T) demonstrated bilateral necrosis in the globus pallidus of clinically unknown etiology. Only high field imaging (2.0 T) revealed a pattern of lesions which is supposed to be specific for Hallervorden-Spatz disease (HSD): bilateral symmetrical decreased signal intensity in the globus pallidus secondary to the T2* effect of paramagnetic substances, principally iron. The neuroradiological differential diagnosis and pathognomonic signs of HSD are discussed.
 ...
PMID:[Nuclear magnetic resonance tomography and differential diagnosis of Hallervorden-Spatz disease]. 156 66

The concentration of iron was determined in the serum of 35 patients; 10 with akathisia, 8 with dystonia and 17 without akathisia or dystonia. The patients exhibiting akathisia or dystonia had significantly lower serum concentration of iron than the patients without akathisia or dystonia. Neuroleptic-induced akathisia or dystonia may be facilitated by the low serum iron.
 ...
PMID:Low serum iron in patients with neuroleptic-induced akathisia and dystonia under antipsychotic drug treatment. 168 97

We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei. Electroneuromyography and skin and sural nerve biopsies were normal. The "eye-of-the-tiger" sign, used to describe the pallidal nuclei in Hallervorden-Spatz syndrome, was present on T2-weighted MRIs (GE Signa, 1.5 T). Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction. This case differs phenotypically from the previous reports of Hallervorden-Spatz disease with acanthocytosis by the presence of prominent orofacial dyskinesia and abnormal serum lipoproteins.
 ...
PMID:Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). 173 3

Aberrant iron metabolism in the brain is typified by Hallervorden-Spatz syndrome. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra. It is characterized by extrapyramidal dysfunction, as demonstrated by dystonia, rigidity, and choreoathetosis; onset during the first two decades of life; and progression of signs and symptoms. Corroborative findings include corticospinal tract involvement, ie, spasticity and extensor toe signs, progressive intellectual impairment, retinitis pigmentosa and optic atrophy (usually associated visual evoked response and electroretinogram abnormalities), seizures, familial occurrence, hypointense areas in the basal ganglia on magnetic resonance imaging scans (particularly in the substantia nigra), abnormal cytosomes in circulating lymphocytes, and sea-blue histiocytes in bone marrow. Iron function in normal brain metabolism is manifold, but high concentrations of iron in the basal ganglia area may signal a unique relationship. Data support the likelihood that iron plays a role in the modulation of dopamine binding to postsynaptic receptors. In addition, transferrin receptors and iron are also concentrated in oligodendrocytes in normal brain and, thus, may have a function in myelination. A role of iron also seems likely in oxidation and peroxidation reactions involving membranes and DNA, a capability that becomes uncontrolled when protective biologic mechanisms become inadequate.
 ...
PMID:Hallervorden-Spatz syndrome and brain iron metabolism. 184 35

A mentally-retarded 21-year-old female with narrowing of the visual field was admitted to our hospital because of dystonia in the body and extremities which appeared 6 months before and was gradually exacerbating. On admission, torsion dystonia, pyramidal tract sign, and retinitis pigmentosa with optic atrophy, urinary incontinence, hyperhidrosis and insomnia were noted. On the Wechsler Adult Intelligence Scale, she achieved less than 60 for verbal-IQ. Laboratory tests including serum copper and ceruloplasmin, were all normal. A computed tomography of the brain showed small hyperdense spot in the globus pallidus on the both sides. There was neither cortical atropy nor ventricular dilatation. A Magnetic Resonance Imaging was obtained using both moderate-field (0.5 Tesla) and high-field (1.5 Tesla) superconducting MR systems. T2-weighted spin echo images demonstrated markedly decreased signal intensity area restricted in the globus pallidus and substantia nigra on both system. Moreover, in the center of the globus pallidus, a small high signal spot was seen ("eye-of the-tiger" sign coined by Sethi et al). There was no abnormal signal in the putamen, caudate nucleus, red nucleus, and dentate nucleus. On the other hand, T1-weighted inversion recovery images were not remarkable. These striking low attenuation on T2-weighted findings suggests an increased iron deposition limited to the globus pallidus and substantia nigra which is characteristic of Hallervorden-Spatz disease/syndrome (H-S). Moreover, "eye-of-the-tiger" sign on T2-weighted MR images in the globus pallidus is previously described in H-S.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[The role of magnetic resonance imaging in the diagnosis of Hallervorden-Spatz disease]. 226 8

Heavily T2-weighted high-field MR images provide a unique opportunity for the evaluation of the extrapyramidal motor system. The images are affected by the presence of small amounts of naturally occurring paramagnetic substances--principally iron--that delineate the neostriatum (caudate and putamen), globus pallidus, red nucleus, substantia nigra, and dentate nucleus, primarily by a decrease in signal secondary to the T2* effect. Movement disorders are associated with either increased or decreased signal or both in these structures, depending on the pathologic process. In the initial evaluation of 113 patients with a variety of movement disorders, good correlation of imaging abnormalities can be made with a simplified schema of the extrapyramidal pathways and a system of classification of abnormal movements, parkinsonism/tremor, dystonia, chorea, myoclonus, and hemiballismus. Parkinsonisms are characterized by abnormalities of the cortico-ponto-cerebello-dentato-rubro-thalamo-cortico-spinal tract or the nigrostriatal tract. Dystonias are characterized by abnormalities of the neostriatum predominantly affecting the putamen. Choreas are also characterized by abnormalities of the neostriatum but predominantly affecting the caudate nucleus. Hemiballismus is characterized by lesions affecting the subthalamic nucleus or associated pathway.
 ...
PMID:Study of movement disorders and brain iron by MR. 244 Feb 91

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.
 ...
PMID:Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. 396 11

The authors present the MRI findings of two children with insidious walking difficulties, signs of corticospinal tract involvement, and signs and symptoms of extrapyramidal dysfunction such as rigidity and generalized dystonia, the latter with predominance of oromandibular involvement. In one child, MRI revealed prominent hypo-intensity in the globus pallidus and in the substantia nigra on T2-weighted spin echo images, consistent with iron deposition and thus with previous post-mortem findings of Hallervorden-Spatz disease. In the other case, the hypo-intensity was restricted to the globus pallidus, in which a small area of hyperintensity in its internal segment was demonstrated--the so called 'eye-of-the-tiger' sign. The authors propose that a combination of previously mentioned neurological signs with these specific MRI findings is highly suggestive of an in vivo diagnosis of the late infantile type of HSD.
 ...
PMID:In vivo diagnosis of Hallervorden-Spatz disease. 864 44

Hallervorden Spatz syndrome (HSS), described in 1.922, is a rare progressive disorder recessively inherited involving the basal ganglia. It is manifested clinically by mental deterioration, rigidity, choreoathetosis and spasticity evident during the first two decades of life. Increased concentration of iron in the globus pallidus and substantia nigra has been demonstrated convincingly. the objective of this paper is to describe two venezuelan children with this syndrome. Patient 1 is a 14-year-old boy with progressive impairment of language, mental deterioration and slowing of voluntary movements started at the age of 8 years. Patient 2 is a young girl first examined at 8 years of age because of psychomotor development delay, progressive impairment of gait, rigidity of the limbs, progressive dystonia and mental deterioration. Multiple test were performed, including metabolic studies, CT scan and magnetic resonance imaging in the brain. These two cases may lead us to think that besides the Huntington Disease, the HSS is also an entity to be taken into consideration in a young patient with movement disorder, mental deterioration and progressive course.
 ...
PMID:[Hallervorden-Spatz syndrome in 2 Venezuelan patients]. 791 58


1 2 3 4 5 6 7 8 9 10 Next >>