Evidence map›Paper›PMID 35054396›Full record

ArticleLife (Basel, Switzerland)2021

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Agnieszka Ługowska, Joanna K Purzycka-Olewiecka, Rafał Płoski, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia T Bilińska and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Life (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Identification of aJournal of clinical medicine · 2022
    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.

Agnieszka ŁugowskaDepartment of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.ORCID 0000-0002-2848-6407
Joanna K Purzycka-OlewieckaDepartment of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, ul. A. Pawińskiego 3c, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Grażyna TruszkowskaMolecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
Maciej PronickiDepartment of Pathology, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Paulina FelczakDepartment of Neuropathology, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
Mateusz ŚpiewakMagnetic Resonance Unit, Department of Radiology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.ORCID 0000-0002-2393-4194
Aleksandra Podlecka-PiętowskaDepartment of Neurology, Medical University of Warsaw, ul. Banacha 1a, 02-097 Warsaw, Poland.
Martyna SitekDepartment of Neurology, Medical University of Warsaw, ul. Banacha 1a, 02-097 Warsaw, Poland.
Zofia T BilińskaUnit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.ORCID 0000-0003-1451-2069
Przemysław LeszekDepartment of Heart Failure and Transplantology, National Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw, Poland.
Małgorzata Bednarska-MakarukDepartment of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.

Funding

National Science Center 2011/01/B/NZ4/03455
6 · The paper itself

Abstract

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the age 32, he presented with dysarthria, ataxia, dystonia, and tremor of the right hand, bilateral slowed neural conduction in the visual pathways, and decreased mental acuity. At the age of 33 years, the patient underwent cardiac transplantation because of severe dilated cardiomyopathy. In the

Indexed as

autosomal recessive spinocerebellar ataxia type 7 (SCAR7)cerebellar ataxiaceroid lipofuscinosis 2 (CLN2)dilated cardiomyopathytripeptidyl peptidase 1 (TPP1)

Identifiers

PMID35054396
PMCPMC8779458

What OpenQuestion holds

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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.