ArticleFrontiers in neurology2018
A Novel Variant in
Article in Frontiers in neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability.Frontiers in neurology · 2022Article
- A novelGenes & diseases · 2021Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity. It is rare for an AMN male patient to present the initial symptoms at such an early age with the adrenal function, sphincter function, and dorsal column of the spinal cord spared. He is also the youngest male AMN patient reported to have cerebellar ataxia. His mother also presented unusually early onset of the similar manifestations. A novel variant c.1144A>C (p.Thr382Pro) in exon 3 of the
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Registered trials
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