ArticleJournal of inherited metabolic disease1997
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.
Article in Journal of inherited metabolic disease, 1997. 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.AJNR. American journal of neuroradiology · 2003Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 3.5-year-old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any neurological disorders, so an extensive work-up was begun. Lysinuria, increased signal on cerebral T2-weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene. PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.
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Registered trials
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