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Late-onset spinal form xanthomatosis without brain lesion: a case report

Overview of attention for article published in BMC Neurology, February 2016
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Title
Late-onset spinal form xanthomatosis without brain lesion: a case report
Published in
BMC Neurology, February 2016
DOI 10.1186/s12883-016-0542-2
Pubmed ID
Authors

Masaru Yanagihashi, Osamu Kano, Tomoya Terashima, Yuji Kawase, Sayori Hanashiro, Masahiro Sawada, Yuichi Ishikawa, Nobuyuki Shiraga, Ken Ikeda, Yasuo Iwasaki

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction including bilateral cataracts, paresis, cerebral ataxia, dementia, and psychiatric disorders, and magnetic resonance imaging (MRI) has revealed symmetrical lesions in the cerebellar white matter. We report the case of a patient with late-onset spinal form CTX without brain lesion. He showed pyramidal tract signs, and impaired joint position and vibration sensation in the lower limbs. Cervical sagittal MRI demonstrated a longitudinally extensive white matter abnormality in the dorsal column of the C2-C7 spinal cord; however, a brain MRI revealed an absence of lesions, including in the cerebellar white matter. Genetic analysis of CYP27A1 revealed that the patient was compound heterozygous for p.Gln85Arg in exon 1, a novel mutation, and p.Arg405Gln in exon 7, a previously reported mutation. This is the first report of late-onset spinal form CTX without typical neurological symptoms, and the first report of p.Gln85Arg in CYP27A1. We speculate that spinal form CTX without brain lesion is a clinically and radiologically rare variation of CTX. Therefore, spinal xanthomatosis should be included in the differential diagnosis of chronic myelopathy even with late-onset and/or no other typical neurological findings.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 26%
Student > Bachelor 4 21%
Other 3 16%
Student > Master 2 11%
Student > Postgraduate 2 11%
Other 2 11%
Unknown 1 5%
Readers by discipline Count As %
Medicine and Dentistry 8 42%
Nursing and Health Professions 3 16%
Neuroscience 2 11%
Agricultural and Biological Sciences 1 5%
Psychology 1 5%
Other 2 11%
Unknown 2 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 February 2016.
All research outputs
#3,623,009
of 7,182,236 outputs
Outputs from BMC Neurology
#727
of 1,132 outputs
Outputs of similar age
#168,579
of 320,133 outputs
Outputs of similar age from BMC Neurology
#22
of 34 outputs
Altmetric has tracked 7,182,236 research outputs across all sources so far. This one is in the 28th percentile – i.e., 28% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,132 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.1. This one is in the 21st percentile – i.e., 21% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 320,133 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.