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)

Here, we present the first instance of Guillain-Barre syndrome variant in a patient with beta thalassemia and iron overload who had a history of transfusion before the onset of symptoms. Our patient was a 50- year-old Persian woman with history of intermediate thalassemia who had been treated with pack cells because of low hemoglobin level. Ten days after transfusion, she developed numbness of arms, left sided ptosis, and afterwards dysarthria, dysphagia, and bilateral ptosis. Electrodiagnosis on day 12 revealed reduced repetition of f-waves in the upper limbs and reduced recruitment with 1+ fibrillation in facial muscles. Electromyography and nerve conduction velocities in the limbs were normal. After excluding other causes and according to electrodiagnosis, the pharyngeal-cervical-brachial variant of Guillain- Barre syndrome was considered and plasma exchange began. Following exchanges, significant clinical improvement was attained. Iron overload and possible transmission of infections from blood products might have contributed in the development of syndrome.
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PMID:Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome in a patient with thalassemia intermedia. 2104 78

Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in the SLC44A1 gene encoding choline transporter-like protein 1. Clinical features included progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Moreover, low signal intensity in globus pallidus with hyperintensive streaking and low signal intensity in substantia nigra were seen in two individuals. The Asp517Metfs*19 and Ser126Metfs*8 fibroblasts were structurally and functionally indistinguishable. The most prominent ultrastructural changes of the mutant fibroblasts were reduced presence of free ribosomes, the appearance of elongated endoplasmic reticulum and strikingly increased number of mitochondria and small vesicles. When chronically treated with choline, those characteristics disappeared and mutant ultrastructure resembled healthy control cells. Functional analysis revealed diminished choline transport yet the membrane phosphatidylcholine content remained unchanged. As part of the mechanism to preserve choline and phosphatidylcholine, choline transporter deficiency was implicated in impaired membrane homeostasis of other phospholipids. Choline treatments could restore the membrane lipids, repair cellular organelles and protect mutant cells from acute iron overload. In conclusion, we describe a novel childhood-onset neurometabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.
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PMID:Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. 3233 75