Evidence map›Paper›PMID 26607151›Full record

ArticleCerebellum (London, England)2016

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Nicolas Nicastro, Emmanuelle Ranza, Stylianos E Antonarakis, Judit Horvath

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 23% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025
    Article
  3. Article
  4. Review
  5. Bilateral hypertrophıc olivary degeneration: case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  6. Review
  7. Review
  8. Review
  9. A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018
    Article
  10. Acquired pendular nystagmus.Journal of the neurological sciences · 2017
    Review
  11. Review
  12. Progressive Ataxia and Palatal Tremor: Think about POLG Mutations.Tremor and other hyperkinetic movements (New York, N.Y.) · 2016
    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

4 authors at 2 institutions in 1 country.

Nicolas NicastroDivision of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.
Emmanuelle RanzaDivision of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Stylianos E AntonarakisDivision of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Judit HorvathDivision of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland. judit.horvath@hcuge.ch.
University Hospital of Geneva · CHUniversity of Geneva · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Progressive ataxia with palatal tremor (PAPT) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. Etiologies include acquired posterior fossa lesions (e.g. tumors, superficial siderosis, and inflammatory diseases) and genetic disorders, such as glial fibrillary acidic protein (GFAP) and polymerase gamma (POLG) mutations. We describe the case of a 52-year-old man who developed pure progressive ataxia and palatal tremor. Genetic analysis has shown that he is compound heterozygote for a known pathogenic (W748S) and a novel POLG variant (I1185N). Patients with POLG recessive mutations usually manifest a more complex clinical picture, including polyneuropathy and epilepsy; our case emphasizes the need to consider a genetic origin in a seemingly sporadic and pure PAPT.

Indexed as

MutationAtaxiaBrainCerebellar DiseasesDiagnosis, DifferentialDNA-Directed DNA PolymeraseDNA Polymerase gammaHumansMaleMiddle AgedMitochondrial DiseasesPhenotypeSyndromeTremorDNA-Directed DNA PolymeraseDNA Polymerase gammaPOLG protein, humanAtaxiaCerebellar disordersMitochondrial disordersPolymerase gamma

Identifiers

PMID26607151
OpenAlexW2177286483

What OpenQuestion holds

Textmetadata
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.