↓ Skip to main content

Neuroacanthocytosis Syndromes

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2011
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

twitter
4 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
132 Dimensions

Readers on

mendeley
186 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Neuroacanthocytosis Syndromes
Published in
Orphanet Journal of Rare Diseases, January 2011
DOI 10.1186/1750-1172-6-68
Pubmed ID
Authors

Hans H Jung, Adrian Danek, Ruth H Walker

Abstract

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.

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 186 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 1%
Colombia 1 <1%
Brazil 1 <1%
Austria 1 <1%
Mexico 1 <1%
Japan 1 <1%
Unknown 179 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 15%
Student > Ph. D. Student 26 14%
Student > Bachelor 23 12%
Other 22 12%
Student > Master 20 11%
Other 43 23%
Unknown 24 13%
Readers by discipline Count As %
Medicine and Dentistry 80 43%
Neuroscience 20 11%
Agricultural and Biological Sciences 17 9%
Nursing and Health Professions 9 5%
Psychology 8 4%
Other 18 10%
Unknown 34 18%

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 12 March 2022.
All research outputs
#4,323,507
of 21,338,015 outputs
Outputs from Orphanet Journal of Rare Diseases
#564
of 2,380 outputs
Outputs of similar age
#34,434
of 170,630 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#2
of 10 outputs
Altmetric has tracked 21,338,015 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,380 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has done well, scoring higher than 75% 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 170,630 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 77% of its contemporaries.
We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 8 of them.