Evidence map›Paper›PMID 39110218›Full record

ArticleJournal of neurology2024

Natural history of non-polyglutamine CACNA1A disease in Austria.

Elisabetta Indelicato, Wolfgang Nachbauer, Matthias S Amprosi, Sarah Maier, Iris Unterberger, Margarete Delazer, Katharina Kaltseis, Stefan Kiechl, Gregor Broessner, Matthias Baumann and 1 more

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In one paragraph

Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  5. Review
  6. Review
  7. 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

11 authors.

Elisabetta IndelicatoCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.ORCID http://orcid.org/0000-0003-0217-8630
Wolfgang NachbauerCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
Matthias S AmprosiCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
Sarah MaierPublic Health, Health Economics, Medical Statistics and Informatics, Institute of Clinical Epidemiology, Innsbruck, Austria.
Iris UnterbergerEpilepsy Center, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Margarete DelazerNeuropsychology, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Katharina KaltseisHeadache Outpatient Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Stefan KiechlCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.ORCID http://orcid.org/0000-0002-9836-2514
Gregor BroessnerHeadache Outpatient Clinic, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Matthias BaumannDepartment of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Sylvia BoeschCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. sylvia.boesch@i-med.ac.at.

Funding

Medizinische Universität Innsbruck 2022-1-3
6 · The paper itself

Abstract

BACKGROUND AND

objectivesNon-polyglutamine CACNA1A variants underlie an extremely variable phenotypic spectrum encompassing developmental delay, hemiplegic migraine, epilepsy, psychiatric symptoms, episodic and chronic cerebellar signs. We provide our experience with the long-term follow-up of CACNA1A patients and their response to interval therapy.

methodsPatients with genetically confirmed non-polyglutamine CACNA1A disease were prospectively followed at the Center for Rare Movement Disorders of the Medical University of Innsbruck from 2004 to 2024.

resultsWe recruited 41 subjects with non-polyglutamine CACNA1A disease, of which 38 (93%) familial cases. The mean age at the first examination was 35 ± 22 years. Disease onset was in the childhood/adolescence in 31/41 patients (76%). Developmental delay and episodic symptoms were the first disease manifestation in 9/41 (22%) and 32/41 (78%) patients respectively. Chronic neurological signs encompassed a cerebellar syndrome in 35/41 (85%), which showed almost no progression during the observation period, as well as cognitive deficits in 9/20 (45%, MOCA test score < 26), psychiatric and behavioral symptoms in 11/41(27%). Seizures occurred in two patients concomitant to severe hemiplegic migraine. At the last visit, 27/41 patients (66%) required an interval prophylaxis (including acetazolamide, flunarizine, 4-aminopyridine, topiramate), which was efficacious in reducing the frequency and severity of episodic symptoms in all cases. In one patient in his 70ies with progressively therapy resistant hemiplegic migraine, treatment with the anti-CGRP antibody galcanezumab successfully reduced the frequency of migraine days from 4 to 1/month.

conclusionsNon-polyglutamine CACNA1A disease show an evolving age-dependent presentation. Interval prophylaxis is effective in reducing the burden of episodic symptoms.

Indexed as

Calcium ChannelsAdolescentAdultAgedAustriaCalcium Channels, N-TypeChildChild, PreschoolDevelopmental DisabilitiesFemaleFollow-Up StudiesHumansMaleMiddle AgedYoung AdultCACNA1A protein, humanCalcium ChannelsCalcium Channels, N-TypeAnti-CGRP antibodyCACNA1AEpisodic ataxiaHemiplegic migraineNatural historyOutcome measurements

Identifiers

PMID39110218
PMCPMC11446988

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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.