Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
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DOI: 10.1002/acn3.51025
Abstract: Biallelic mutations in ECHS1, encoding the mitochondrial enoyl‐CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia‐ataxia syndrome with hearing loss and a… read more here.
Keywords: nystagmus caused; ataxia syndrome; dystonia ataxia; torsional nystagmus ... See more keywords
Ipsilesional Torsional Nystagmus in Midbrain Infarction: A Rare Entity of Localizing Value
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DOI: 10.4103/aian.aian_646_19
Abstract: 1. Prashanth LK, Jaychandran R, Seetharam R, Iyer RB. Apomorphine: The initial indian experience in relation to response tests and pumps. Ann Indian Acad Neurol 2020. Advanced online publication. doi: 10.4103/aian.AIAN_428_19 2. Weiner WJ. Motor… read more here.
Keywords: disord; mov disord; ipsilesional torsional; torsional nystagmus ... See more keywords