Evidence map›Paper›PMID 27687732›Full record

ArticleCerebellum (London, England)2017

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini

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In one paragraph

Article in Cerebellum (London, England), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Rubens Paulo A SalomãoDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Maria Thereza Drumond GamaDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Flávio Moura Rezende FilhoDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Fernanda MaggiDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
José Luiz PedrosoDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com.
Orlando G P BarsottiniDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.

Indexed as

AdultAge of OnsetCharcot-Marie-Tooth DiseaseDiagnosis, DifferentialFriedreich AtaxiaHumansMaleCharcot–Marie–Tooth diseaseFriedreich’s ataxiaHereditary ataxiashereditary neuropathies

Identifiers

PMID27687732

What OpenQuestion holds

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Registered trials

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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.