Evidence map›Paper›PMID 36997834›Full record

ReviewCerebellum (London, England)2024

Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.

Giovanna De Michele, Luigi Maione, Sirio Cocozza, Mario Tranfa, Chiara Pane, Daniele Galatolo, Anna De Rosa, Giuseppe De Michele, Francesco Saccà, Alessandro Filla

Abstract readReview
PubMed Publisher
In one paragraph

Review in Cerebellum (London, England), 2024. 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
0.6field-weighted citation impact, top 38% 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, 4 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

10 authors at 3 institutions in 2 countries.

Giovanna De MicheleDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy. giodemic@gmail.com.
Luigi MaioneDepartment of Endocrinology and Reproductive Diseases, Paris-Saclay University, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicetre, Paris, France.
Sirio CocozzaDepartment of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
Mario TranfaDepartment of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
Chiara PaneDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Daniele GalatoloIstituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy.
Anna De RosaDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Giuseppe De MicheleDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Francesco SaccàDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Alessandro FillaDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
Federico II University Hospital · ITFondazione Stella Maris · ITUniversité Paris-Saclay · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The association of hypogonadism and cerebellar ataxia was first recognized in 1908 by Gordon Holmes. Since the seminal description, several heterogeneous phenotypes have been reported, differing for age at onset, associated features, and gonadotropins levels. In the last decade, the genetic bases of these disorders are being progressively uncovered. Here, we review the diseases associating ataxia and hypogonadism and the corresponding causative genes. In the first part of this study, we focus on clinical syndromes and genes (RNF216, STUB1, PNPLA6, AARS2, SIL1, SETX) predominantly associated with ataxia and hypogonadism as cardinal features. In the second part, we mention clinical syndromes and genes (POLR3A, CLPP, ERAL1, HARS, HSD17B4, LARS2, TWNK, POLG, ATM, WFS1, PMM2, FMR1) linked to complex phenotypes that include, among other features, ataxia and hypogonadism. We propose a diagnostic algorithm for patients with ataxia and hypogonadism, and we discuss the possible common etiopathogenetic mechanisms.

Indexed as

Amino Acyl-tRNA SynthetasesCerebellar AtaxiaFragile X Messenger Ribonucleoprotein 1HypogonadismRNA Polymerase IIIAtaxiaDNA HelicasesGuanine Nucleotide Exchange FactorsHumansMultifunctional EnzymesMutationPhenotypeRNA HelicasesUbiquitin-Protein LigasesAmino Acyl-tRNA SynthetasesDNA HelicasesFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Guanine Nucleotide Exchange FactorsLARS2 protein, humanMultifunctional EnzymesPOLR3A protein, humanRNA HelicasesRNA Polymerase IIIRNF216 protein, humanSETX protein, humanSIL1 protein, humanSTUB1 protein, humanUbiquitin-Protein LigasesAtaxiaGordon Holmes syndromeHypogonadismNGS

Identifiers

PMID36997834
OpenAlexW4362458289

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.