Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 10-year-old Down syndrome patient who developed dystonia, choreoathetosis, dysarthria, and dysphagia beginning with hemiparesis. Cranial computed tomography disclosed bilateral calcification in the globus pallidus which resembled a sign of premature aging. Conversely, the clinical course and magnetic resonance imaging findings resembled those of Hallervorden-Spatz syndrome.
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PMID:Globus pallidus calcification in Down syndrome with progressive neurologic deficits. 153 15

Magnetic resonance (MR) imaging of a case of Hallervorden-Spatz disease (HSD) using a 1.5 T system is described. The patient showed progressive spastic diplegia with equinovarus deformity of the feet, dystonic postural movements, dysarthria, dysphagia, mental deterioration, optic nerve atrophy, and peripheral neuropathy. These clinical features were compatible with HSD. Symmetrical, decreased signal intensity was seen on both proton density weighted and T2-weighted spin echo images in the globus pallidus as well as in the substantia nigra (Group I). This MR finding suggests an increased iron deposition in these subcortical nuclei, which is characteristic of HSD. The characteristic MR imaging, together with the relevant clinical features, was considered to be useful for establishing the diagnosis of HSD.
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PMID:MR imaging of a group I case of Hallervorden-Spatz disease. 317 Aug 46

We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.
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PMID:Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). 789 2

Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic. We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old. He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became completely bedridden at 6 years old. Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. The brain magnetic resonance imaging (MRI) done at the age of 8 years revealed symmetrical low signal intensity over the bilateral globus pallidi in the T2-weighted images coexistent with an area of high signal intensity over the anteromedial portion, known as "eye of the tiger" sign. Another MRI, followed up two years later, did not show marked difference in signal abnormalities over the globus pallidi in the T2-weighted images as compared with that of the previous one. However, progressive neurological deterioration existed.
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PMID:Clinical and MRI study of the Hallervorden-Spatz syndrome: long-term follow-up of one case. 794 31

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.
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PMID:Clinical features and molecular bases of neuroacanthocytosis. 1218 48

Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis. As pathology in the human condition is limited to the central nervous system, specifically the retina and globus pallidus, we have generated a mouse knock-out of the orthologous murine gene (Pank2) to enhance our understanding of the mechanisms of disease and to serve as a testing ground for therapies. Over time, the homozygous null mice manifest retinal degeneration, as evidenced by electroretinography, light microscopy and pupillometry response. Specifically, Pank2 mice show progressive photoreceptor decline, with significantly lower scotopic a- and b-wave amplitudes, decreased cell number and disruption of the outer segment and reduced pupillary constriction response when compared with those of wild-type littermates. Additionally, the homozygous male mutants are infertile due to azoospermia, a condition that was not appreciated in the human. Arrest occurs in spermiogenesis, with complete absence of elongated and mature spermatids. In contrast to the human, however, no changes were observed in the basal ganglia by MRI or by histological exam, nor were there signs of dystonia, even after following the mice for one year. Pank2 mice are 20% decreased in weight when compared with their wild-type littermates; however, dysphagia was not apparent. Immunohistochemistry shows staining consistent with localization of Pank2 to the mitochondria in both the retina and the spermatozoa.
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PMID:Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. 1552 57

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.
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PMID:Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. 1574 60

Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders. This review summarizes the clinical presentation, molecular pathogenesis, imaging modalities and genetics.
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PMID:[Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease]. 3070 42