Evidence map›Paper›PMID 33995769›Full record

ArticleThe Pan African medical journal2021

Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).

Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussair

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

Article in The Pan African medical journal, 2021. 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
0.1field-weighted citation impact, top 64% 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, 1 citations in OpenAlex.

  1. Review
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

8 authors at 3 institutions in 1 country.

Fatima Zahra BouzidGenetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco.
Maria MansouriGenetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco.
Chaikhy AbdelazizPrivate Ophthalmology Practice Agadir, Agadir, Maroc.
Nisrine LouhabSchool of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco.
Sablonniere BernardBiochemistry and Molecular Biology Pole, Department of Neurobiology Biology Pathology Center, Lille University Hospital, Lille, French.
Isabelle Strubi-VuillaumeNeurology Department, University Hospital Centre Mohammed VI, Marrakech, Morocco.
Kenza DafirGenetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco.
Nisrine AboussairGenetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco.
Centre Hospitalier Universitaire Mohammed VI · MACadi Ayyad University · MARégie Autonome Multi Services D'Agadir · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. We report in this study the clinical and genetic features of a new Moroccan family of SCA7, from the South of Morocco. We performed the molecular genetic testing to confirm the diagnosis of SCA7. The objective of this study is to report a new Moroccan case of SCA7 and to illustrate the role of the geneticist in the diagnosis, management and development of genetic counseling of SCA7 disease.

Indexed as

AdolescentAdultAtaxin-7FemaleGenetic TestingHumansMaleMoroccoMutationSpinocerebellar AtaxiasYoung AdultAtaxin-7ATXN7 protein, humanATXN7 geneCAG repeatsCase reportspinocerebellar ataxia type 7

Identifiers

PMID33995769
PMCPMC8077635
OpenAlexW3129688951

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.