2007
DOI: 10.1590/s0004-282x2007000100008
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A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Abstract: -We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) seque… Show more

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Cited by 11 publications
(14 citation statements)
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References 18 publications
(23 reference statements)
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“…This finding is in contrast to reports of hyperintensity of brainstem nuclei (Koul et al , 2006; Malheiros et al , 2007), atrophy of the brainstem (Francis et al , 1993; Koc et al , 2003; Malheiros et al , 2007) and atrophy of the cerebellum (Francis et al , 1993; Koc et al , 2003) in genetically undifferentiated cohorts of patients with Brown-Vialetto-Van Laere syndrome.…”
Section: Resultscontrasting
confidence: 99%
“…This finding is in contrast to reports of hyperintensity of brainstem nuclei (Koul et al , 2006; Malheiros et al , 2007), atrophy of the brainstem (Francis et al , 1993; Koc et al , 2003; Malheiros et al , 2007) and atrophy of the cerebellum (Francis et al , 1993; Koc et al , 2003) in genetically undifferentiated cohorts of patients with Brown-Vialetto-Van Laere syndrome.…”
Section: Resultscontrasting
confidence: 99%
“…Investigations are usually done to exclude other causes or confirm the clinical signs of the patients. Neurophysiological studies show changes consistent with chronic [ 5 , 7 , 9 , 11 - 14 , 16 , 21 , 22 , 25 , 28 , 33 ] or active [ 6 - 8 , 15 , 19 , 20 , 24 , 26 , 27 , 29 , 33 ] denervation in muscles. Motor nerve conduction velocities are usually normal.…”
Section: Diagnosismentioning
confidence: 96%
“…Several other neurological features have been seen in patients with BVVL. Abnormalities of the fundi that have been reported include optic atrophy [ 5 , 13 , 20 , 21 , 27 ], retinitis pigmentosa [ 22 ] and macular hyperpigmentation [ 25 ]. Autonomic dysfunction [ 2 , 13 , 28 , 29 ], epilepsy [ 2 , 18 ], mental retardation [ 1 , 2 , 25 ], reduced horizontal eye movements [ 6 ] and tremor [ 9 , 25 ] have also been associated with BVVL.…”
Section: Clinical Descriptionmentioning
confidence: 99%
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