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A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome

Overview of attention for article published in Rinshō shinkeigaku Clinical neurology, January 2016
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4 tweeters

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27 Mendeley
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Title
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome
Published in
Rinshō shinkeigaku Clinical neurology, January 2016
DOI 10.5692/clinicalneurol.cn-000846
Pubmed ID
Authors

Mio Hamatani, Naoto Jingami, Kengo Uemura, Naoe Nakasone, Hisanori Kinoshita, Hodaka Yamakado, Haruaki Ninomiya, Ryosuke Takahashi

Abstract

A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased cerebral blood flow in the left frontotemporal lobe as often seen in savant syndrome. Although genetic analysis of NPC1 and NPC2 revealed no pathogenic mutation, filipin staining of cultured fibroblasts from his biopsied skin revealed a certain amount of intracellular cholesterol storage pattern, indicating a variant biochemical phenotype of Niemann-Pick disease type C (NPC). The diagnosis of adulthood onset NPC is difficult and challenging, especially for neurologists, because the symptoms and signs are not as clear as those in the classical childhood onset NPC and this subtype is not yet widely known. However, the diagnosis can be made by a combination of filipin staining of fibroblast and/or gene analysis. As a disease-specific therapy for NPC has been approved in Japan, the diagnosis of NPC is of significance.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters 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 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 27 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 15%
Other 4 15%
Student > Bachelor 2 7%
Librarian 2 7%
Researcher 2 7%
Other 6 22%
Unknown 7 26%
Readers by discipline Count As %
Medicine and Dentistry 7 26%
Nursing and Health Professions 4 15%
Psychology 3 11%
Biochemistry, Genetics and Molecular Biology 2 7%
Linguistics 2 7%
Other 3 11%
Unknown 6 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 23 May 2021.
All research outputs
#14,850,641
of 22,870,727 outputs
Outputs from Rinshō shinkeigaku Clinical neurology
#231
of 629 outputs
Outputs of similar age
#218,980
of 393,666 outputs
Outputs of similar age from Rinshō shinkeigaku Clinical neurology
#19
of 55 outputs
Altmetric has tracked 22,870,727 research outputs across all sources so far. This one is in the 33rd percentile – i.e., 33% of other outputs scored the same or lower than it.
So far Altmetric has tracked 629 research outputs from this source. They receive a mean Attention Score of 2.2. This one has gotten more attention than average, scoring higher than 61% of its peers.
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 393,666 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.