Evidence map›Paper›PMID 39525553›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2024

Adult-Onset Neuronal Ceroid Lipofuscinosis:

Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj

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

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Karri MadhaviDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0000-0003-1886-2955
Rukmini Mridula KandadaiDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0000-0002-4840-5715
Sruthi KolaDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0000-0001-8165-0731
Rupam BorgohainDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0000-0001-6734-3305
Rajesh AlugoluDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0000-0003-4001-7109
Vvsrk PrasadDepartment of Parkinson's and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Banjara Hills, Hyderabad, Telangana, India.ORCID 0009-0002-4493-7295
Bevinahalli N NandeeshDepartment of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru-29, Karnataka, India.ORCID 0000-0002-3401-449X
Periyasamy GovindarajDepartment of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru-29, Karnataka, India.ORCID 0000-0003-0860-5592

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. Case report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the Conclusion: Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.

Indexed as

Neuronal Ceroid-LipofuscinosesDystonic DisordersHumansLysosomal Membrane ProteinsMaleMembrane ProteinsMiddle AgedCLN5 protein, humanLysosomal Membrane ProteinsMembrane ProteinsAdult-onset Neuronal ceroid lipofuscinosisCLN5 variantDystonia

Identifiers

PMID39525553
PMCPMC11545912

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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.