Evidence map›Paper›PMID 39512794›Full record

ArticleNeurology. Genetics2024

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-

Pierfrancesco Mitrotti, Elisa Vegezzi, Roberta Zangaglia, Ilaria Palmieri, Marie-Josée Dicaire, Simone Gana, Sayna Rahimi Aghdas, Silvia Nicolosi, Anna Pichiecchio, Cristina Tassorelli and 2 more

Abstract read
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In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
–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

5 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Monoallelic ATP7B variants in adult-onset cerebellar ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  5. 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

12 authors.

Pierfrancesco MitrottiFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.ORCID https://orcid.org/0000-0003-3574-1290
Elisa VegezziFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.ORCID https://orcid.org/0000-0001-8776-6831
Roberta ZangagliaFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Ilaria PalmieriFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Marie-Josée DicaireFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.ORCID https://orcid.org/0009-0003-0938-1268
Simone GanaFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Sayna Rahimi AghdasFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Silvia NicolosiFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Anna PichiecchioFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Cristina TassorelliFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.
Enza Maria ValenteFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.ORCID https://orcid.org/0000-0002-0600-6820
Micol AvenaliFrom the Department of Brain and Behavioural Sciences (P.M., A.P., C.T., M.A.), University of Pavia; IRCCS Mondino Foundation (E.V., R.Z., I.P., S.G., S.R.A., C.T., E.M.V., M.A.), Pavia, Italy; Department of Neurology and Neurosurgery (M.-J.D.), Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada; Advanced Imaging Center and Artificial Intelligence (S.N., A.P.), Department of Neuroradiology, IRCCS Mondino Foundation; and Department of Molecular Medicine (E.M.V.), University of Pavia, Italy.ORCID https://orcid.org/0000-0002-7880-9921

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To report a novel imaging finding of bilateral dentate nuclei hyperintensities in a case of childhood-onset GAA- Methods: A 53-year-old woman with unsolved progressive cerebellar ataxia of childhood onset underwent clinical and imaging assessment and extensive genetic investigation. Results: After excluding Friedreich ataxia, most common spinocerebellar ataxia-related expansions, and pathogenic variants in ataxia-related genes through exome sequencing, targeted long-range PCR and repeat-primed PCR analysis revealed a heterozygous pathogenic (GAA) Discussion: We confirm that SCA27B, initially considered a late-onset condition, can present with very early onset in childhood and describe a novel imaging feature of this common hereditary ataxia. Previous imaging studies had described a spectrum of findings, variably including cerebellar vermian and hemispheric atrophy, hyperintensities of the superior cerebellar peduncles, cerebral and brainstem atrophy, ventricular enlargement, and corpus callosum thinning. In this case, T2/FLAIR bilateral dentate nuclei hyperintensities and peridentate white matter degeneration expand the neuroradiologic spectrum associated with GAA-

Identifiers

PMID39512794
PMCPMC11543268

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