Evidence map›Paper›PMID 27896316›Full record

ArticleNeurology. Genetics2016

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy.

Yuji Takahashi, Masahiro Kanai, Tomoya Taminato, Shoko Watanabe, Chihiro Matsumoto, Toshiyuki Araki, Tomoko Okamoto, Masafumi Ogawa, Miho Murata

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 42% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Yuji TakahashiDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Masahiro KanaiDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Tomoya TaminatoDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Shoko WatanabeDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Chihiro MatsumotoDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Toshiyuki ArakiDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Tomoko OkamotoDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Masafumi OgawaDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
Miho MurataDepartment of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
National Center of Neurology and Psychiatry · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar degeneration (SCD) is a group of disorders characterized by progressive ataxia caused by dysfunction and atrophy of the cerebellum or its projections. Approximately one-third of SCD cases are familial SCD, the majority of which are attributed to CAG triplet repeat expansions including spinocerebellar ataxia (SCA)1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA6, SCA8, SCA12, SCA17, and dentate-rubro-pallido-luysian atrophy (DRPLA). The triplet repeat number of the alleles representing complete penetrance varies among diseases. Generally, there is a gap between the normal alleles and the complete penetrance alleles. Rarely, intermediate alleles with the repeat numbers between the abnormal and normal ranges are observed, although the implications of these intermediate alleles remain ambiguous.

Identifiers

PMID27896316
PMCPMC5118846
OpenAlexW2553418024

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.