A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.

Satoshi Tanaka, Masaki Kobayashi, Ryotaro Ikeguchi, Naoko Iwasaki

Abstract readCase Reports

In one paragraph

Article in JCEM case reports, 2025. 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

–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.

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2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Satoshi TanakaDiabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, Tokyo 162-8666, Japan.ORCID https://orcid.org/0009-0009-8735-7435

Masaki KobayashiDepartment of Neurology, School of Medicine, Tokyo Women's Medical University, Tokyo 162-8666, Japan.

Ryotaro IkeguchiDepartment of Neurology, School of Medicine, Tokyo Women's Medical University, Tokyo 162-8666, Japan.ORCID https://orcid.org/0000-0002-1197-1705

Naoko IwasakiDiabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, Tokyo 162-8666, Japan.ORCID https://orcid.org/0000-0002-1857-7890

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder. MODY is a rare monogenic form of diabetes mellitus, typically associated with urogenital anomalies and pancreatic hypoplasia. At the age of 25, she was diagnosed with diabetes mellitus. The clinical findings, including bilateral renal cysts, agenesis of the pancreatic body and tail, and impaired insulin secretion without β-cell-specific autoimmune autoantibodies, suggested HNF1B-MODY. A 1.4-Mb hemiallelic deletion on chromosome 17q12 encompassing

Indexed as

ALSamyotrophic lateral sclerosisHNF-1Bmaturity-onset diabetes of the youngMODY

Identifiers

PMID41018173

DOI10.1210/jcemcr/luaf219

PMCPMC12461566

What Socratic holds

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LicenceCC BY-NC-ND

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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 Socratic graph.