نتایج جستجو برای: van laere syndrome
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Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...
four cases of brown-vialetto-van laere syndrome from iran: clinical and electrophysiologic findings.
brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder. we report our finding about four patients clinically and electrophysiologically diagnosed as bvvls and denoted their clinical features with comparison to previous reports. the first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. our patients represented som...
Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown-Vialetto-Van ...
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropat...
The syndrome described by Brown(l) Vialetto(2) and Van Laere(3) is a rare, often familial, characterized by bilateral nerve deafness followed or accompanied by involvement of various motor cranial nerves, e.g., 7th and 9th to 12th, rarely 3rd, 5th and 6th. On rare occasions, there may also be involvement of spinal motor nerves and less commonly of upper motor neurons. The onset of the disease i...
A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it cou...
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