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Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

Overview of attention for article published in Cerebellum & Ataxias, December 2015
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  • Among the highest-scoring outputs from this source (#45 of 103)
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Title
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing
Published in
Cerebellum & Ataxias, December 2015
DOI 10.1186/s40673-015-0038-7
Pubmed ID
Authors

Christine Zühlke, Barbara Mikat, Dagmar Timmann, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Katrin Bürk

Abstract

Spinocerebellar ataxia type 28 (SCA28) is related to mutations of the ATPase family gene 3-like 2 gene (AFG3L2). To date, 13 private missense mutations have been identified in families of French, Italian, and German ancestry, but overall, the disorder seems to be rare in Europe. Here, we report a kindred of German ancestry with four affected family members presenting with slowly progressive ataxia, mild pyramidal tract signs and slow saccades. After excluding repeat expansions in the genes for SCA1-3, 6-8, 10, 12, and 17, Sanger sequencing of the coding regions of TTBK2 (SCA11), KCNC3 (SCA13), PRKCG (SCA14), FGF14 (SCA27) and AFG3L2 (SCA28) was performed. The 17 coding exons of AFG3L2 with flanking intronic sequences were amplified by PCR and sequenced on both strands. Sequencing detected a novel potential missense mutation (p.Y689N) in the C-terminal proteolytic domain, the mutational hotspot of AFG3L2. The online programme "PolyPhen-2" classifies this amino acid exchange as probably damaging (score 0.990). Similarly to most of the published SCA28 mutations, the novel mutation is located within exon 16. Mutations in exon 16 alter the proteolytic activity of the protease AFG3L2 that is highly expressed in Purkinje cells. Genetic testing should be considered in dominant ataxia with pyramidal tract signs and saccadic slowing.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
Unknown 31 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 22%
Student > Ph. D. Student 5 16%
Student > Doctoral Student 3 9%
Student > Bachelor 3 9%
Student > Master 3 9%
Other 3 9%
Unknown 8 25%
Readers by discipline Count As %
Medicine and Dentistry 7 22%
Biochemistry, Genetics and Molecular Biology 5 16%
Neuroscience 4 13%
Nursing and Health Professions 3 9%
Agricultural and Biological Sciences 2 6%
Other 2 6%
Unknown 9 28%
Attention Score in Context

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 18 December 2015.
All research outputs
#14,242,730
of 22,835,198 outputs
Outputs from Cerebellum & Ataxias
#45
of 103 outputs
Outputs of similar age
#204,221
of 390,452 outputs
Outputs of similar age from Cerebellum & Ataxias
#6
of 9 outputs
Altmetric has tracked 22,835,198 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 103 research outputs from this source. They receive a mean Attention Score of 3.1. This one is in the 49th percentile – i.e., 49% 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 390,452 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.