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Niemann-Pick disease type C symptomatology: an expert-based clinical description

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2013
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  • Good Attention Score compared to outputs of the same age (75th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

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3 X users
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1 Google+ user

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199 Mendeley
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Title
Niemann-Pick disease type C symptomatology: an expert-based clinical description
Published in
Orphanet Journal of Rare Diseases, October 2013
DOI 10.1186/1750-1172-8-166
Pubmed ID
Authors

Eugen Mengel, Hans-Hermann Klünemann, Charles M Lourenço, Christian J Hendriksz, Frédéric Sedel, Mark Walterfang, Stefan A Kolb

Abstract

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months-6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca(®)), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 199 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Philippines 1 <1%
Russia 1 <1%
Unknown 197 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 30 15%
Researcher 26 13%
Student > Bachelor 24 12%
Student > Master 19 10%
Other 18 9%
Other 36 18%
Unknown 46 23%
Readers by discipline Count As %
Medicine and Dentistry 55 28%
Agricultural and Biological Sciences 22 11%
Biochemistry, Genetics and Molecular Biology 22 11%
Neuroscience 16 8%
Psychology 9 5%
Other 20 10%
Unknown 55 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 14 December 2022.
All research outputs
#6,373,631
of 25,374,647 outputs
Outputs from Orphanet Journal of Rare Diseases
#817
of 3,105 outputs
Outputs of similar age
#53,686
of 224,556 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#14
of 56 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 73% 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 224,556 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 75% of its contemporaries.
We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.